Pupillary constriction on stimulation of the parietal cortex-A novel finding.

Pupillary changes can be an important semiologic feature in focal epilepsy. Though the subcortical networks involving pupillomotor function have been described, cortical generators of pupillary dilation and constriction in humans are not well known. In this report, we describe a case of pupillary constriction occurring during seizures in a patient with drug resistant focal epilepsy. On stereoelectroencephalography, onset was noted within the posterior segment of the right intraparietal sulcus and direct cortical electrical stimulation of these electrode contacts reproduced pupillary constriction associated with habitual seizures. This is the first case report to describe ictal pupillary constriction during SEEG with confirmation of the cortical localization by direct cortical electrical stimulation. The posterior segment of the right intraparietal sulcus localization of pupillary constriction may aid in surgical evaluation patients with drug resistant focal epilepsy.

ITPR1: The missing gene in miosis-ataxia syndrome?

The association of early-onset non-progressive ataxia and miosis is an extremely rare phenotypic entity occasionally reported in the literature. To date, only one family (two siblings and their mother) has benefited from a genetic diagnosis by the identification of a missense heterozygous variant (p.Arg36Cys) in the ITPR1 gene. This gene encodes the inositol 1,4,5-trisphosphate receptor type 1, an intracellular channel that mediates calcium release from the endoplasmic reticulum. Deleterious variants in this gene are known to be associated with two types of spinocerebellar ataxia, SCA15 and SCA29, and with Gillespie syndrome that is associated with ataxia, partial iris hypoplasia, and intellectual disability. In this work, we describe a novel individual carrying a heterozygous missense variant (p.Arg36Pro) at the same position in the N-terminal suppressor domain of ITPR1 as the family previously reported, with the same phenotype associating early-onset non-progressive ataxia and miosis. This second report confirms the implication of ITPR1 in the miosis-ataxia syndrome and therefore broadens the clinical spectrum of the gene. Moreover, the high specificity of the phenotype makes it a recognizable syndrome of genetic origin.

Blepharoptosis As an Early Manifestation of Neuronal Intranuclear Inclusion Disease.

Neuronal intranuclear inclusion disease (NIID) exhibits diverse clinical manifestations. Our patient was a 64-year-old woman with bilateral ptosis as the chief complaint. She had bilateral miosis, and the pupil was only slightly dilated 60 min after 1% phenylephrine administration, suggesting autonomic dysfunction secondary to preganglionic sympathetic impairment. A head-up tilt test revealed asymptomatic orthostatic hypotension. She was diagnosed with NIID based on a skin biopsy and genetic testing. This study suggests that blepharoptosis is an early manifestation of NIID. Furthermore, patients with suspected NIID should be examined carefully for autonomic dysfunction.

Effects of Miosis on the Visual Acuity Space under Varying Conditions of Contrast and Ambient Luminance in Presbyopia.

Background: Presbyopia is an age-related ocular condition, typically affecting individuals aged over 40 years, characterized by a gradual and irreversible decline in the eye's ability to focus on nearby objects. Correction methods for presbyopia encompass the use of corrective lenses, surgical interventions (corneal or lens based), and, more recently, the FDA-approved topical administration of 1.25% pilocarpine. While prior research has demonstrated the efficacy of daily pilocarpine eye drop application in enhancing near visual acuity by increasing the depth of focus leveraging the pinhole effect, limited knowledge exists regarding its influence on visual acuity under varying conditions of contrast and ambient luminance. Methods: This study aims to investigate the impact of these variables on visual acuity, employing the VA-CAL test, among 11 emmetropic and 11 presbyopic volunteers who reported subjective difficulties with near vision. This study includes evaluations under natural conditions with a pinhole occluder (diameter of 2 mm), and subsequent administration of 1% pilocarpine (Pilomann, Bausch + Lomb, Laval, Canada). Results: The VA-CAL results demonstrate the expected, statistically significant effects of contrast and ambient luminance on visual acuity in both emmetropic and presbyopic volunteers. Furthermore, in emmetropic individuals, the application of pilocarpine resulted in a statistically significant reduction in visual acuity. In contrast, presbyopes did not exhibit statistically significant differences in the visual acuity space under either the pinhole or pilocarpine conditions when compared to natural conditions. Conclusions: The pharmacological treatment of presbyopia with pilocarpine eye drops, intended to enhance near vision, does not adversely affect visual acuity in presbyopes. This suggests that pilocarpine may offer a viable alternative for individuals averse to wearing corrective eyewear.

PBPK-PD model for predicting morphine pharmacokinetics, CNS effects and naloxone antagonism in humans.

Morphine and morphine-6-glucuronide (M6G) produce central nervous system (CNS) effects by activating mu-opioid receptors, while naloxone is used mainly for the reversal of opioid overdose, specifically for the fatal complication of respiratory depression, but also for alleviating opioid-induced side effects. In this study we developed a physiologically-based pharmacokinetic-pharmacodynamic (PBPK-PD) model to simultaneously predict pharmacokinetics and CNS effects (miosis, respiratory depression and analgesia) of morphine as well as antagonistic effects of naloxone against morphine. The pharmacokinetic and pharmacodynamic parameters were obtained from in vitro data, in silico, or animals. Pharmacokinetic and pharmacodynamic simulations were conducted using 39 and 36 clinical reports, respectively. The pharmacokinetics of morphine and M6G following oral or intravenous administration were simulated, and the PBPK-PD model was validated using clinical observations. The Emax model correlated CNS effects with free concentrations of morphine and M6G in brain parenchyma. The predicted CNS effects were compared with observations. Most clinical observations fell within the 5th-95th percentiles of simulations based on 1000 virtual individuals. Most of the simulated area under the concentration-time curve or peak concentrations also fell within 0.5-2-fold of observations. The contribution of morphine to CNS effects following intravenous or oral administration was larger than that of M6G. Pharmacokinetics and antagonistic effects of naloxone on CNS effects were also successfully predicted using the developed PBPK-PD model. In conclusion, the pharmacokinetics and pharmacodynamics of morphine and M6G, antagonistic effects of naloxone against morphine-induced CNS effects may be successfully predicted using the developed PBPK-PD model based on the parameters derived from in vitro, in silico, or animal studies.

Using AI Text-to-Image Generation to Create Novel Illustrations for Medical Education: Current Limitations as Illustrated by Hypothyroidism and Horner Syndrome.

Our research letter investigates the potential, as well as the current limitations, of widely available text-to-image tools in generating images for medical education. We focused on illustrations of important physical signs in the face (for which confidentiality issues in conventional patient photograph use may be a particular concern) that medics should know about, and we used facial images of hypothyroidism and Horner syndrome as examples.

Acute Pupillary Disorders in Children: A 10-Year Retrospective Study of 101 Patients.

BACKGROUND: To date, no study has specifically examined children with acute-onset pupillary motility disorders (APMD). Especially in the Emergency Department (ED), it is crucial to distinguish benign and transient conditions from life-threatening or urgent conditions (UCs). The aim of the study is to describe the clinical characteristics of children with APMD and their association with an increased risk of UCs. METHODS: We conducted a pediatric retrospective study of APMD referred to ED over a 10-year period. We described the characteristics in the overall sample and in two subgroups divided according to urgency of the underlying condition. Furthermore, we applied a logistic regression model to identify the variables predictive of LT condition. RESULTS: We analyzed 101 patients. In 59.4%, the APMD was isolated. In patients with extra-ocular involvement, the most frequently associated features were altered consciousness, headache, and vomiting. Exposure to toxic agents was reported in 48.5%. Urgent conditions occurred significantly more frequently in older children, presenting bilateral APMD and/or other ocular or extra-ocular manifestations. CONCLUSIONS: Our study shows that UCs most commonly occur in patients presenting with bilateral APMD and other associated features. In unilateral/isolated APMD ophthalmological examination, exclusion of toxic exposure and observation until resolution of symptoms should be recommended.

Horner's Syndrome Following Thyroid Surgery.

Horner's syndrome (HS) is a rare complication of thyroidectomy caused by damage to the oculosympathetic nerves. This article reports the case of a 29-year-old woman referred to the clinic with a newly diagnosed papillary thyroid carcinoma (PTC). Ultrasound studies were concerning for multiple thyroid nodules and an enlarged lymph node, confirmed by a computed tomography (CT) scan. Cytology results of fine needle aspiration (FNA) diagnostic for PTC showed tumors in the thyroid tissue and lymph node. The patient underwent a thyroidectomy and woke up with right-sided ptosis and miosis. Clinical follow-up revealed subjective ipsilateral anhidrosis. She also developed a low parathyroid hormone level and dysphonia, albeit they resolved after months. The patient still exhibits HS eight months after surgery. This paper reviews the literature and attempts to establish the most probable causal factor while providing implications for surgical teams to minimize HS occurrence in future thyroid surgeries.

Carbendazim exposure inhibits mouse oocytes meiotic maturation in vitro by destroying spindle assembly.

Successful fertilization and early embryonic development heavily depend on the quality of the oocytes. Carbendazim (CBZ), a broad-spectrum fungicide, is widely available in the environment and has adverse effects on organisms. The present study focused on exploring the potential reproductive toxicity of CBZ exposure by investigating its effects on the maturation of mouse oocytes. The results demonstrated that although no disruptions were observed in the G2/M stage transition for meiosis resumption, CBZ did hinder the polar body extrusion (PBE) occurring during oocyte maturation. Cell cycle distribution analysis revealed that CBZ exposure interfered with the meiotic process, causing oocytes to be arrested at the metaphase I (MI) stage. The subsequent investigation highlighted that CBZ exposure impeded the spindle assembly and chromosomal alignment, which was linked to a decline in the level of p-MAPK. Additionally, CBZ exposure adversely affected the kinetochore-microtubule (K-MT) attachment, leading to the persistent activation of the spindle-assembly checkpoint (SAC). The study further noticed a substantial rise in the acetylation of α-tubulin and a reduction in spindle microtubule stability in CBZ-treated oocytes. In addition, the distribution pattern of estrogen receptor alpha (ERα) was altered in oocytes treated with CBZ, with abnormal aggregation on the spindles. CBZ exposure also resulted in altered histone modifications. A notable finding from this research was that the meiotic maturation of some oocytes remained unaffected even after CBZ treatment. However, during the ensuing metaphase II (MII) stage, these oocytes displayed anomalies in their spindle morphology and chromosome arrangement and diminished ability to bind to the sperm. The observations made in this study underscore the potential for CBZ to disrupt the meiotic maturation of oocytes, leading to a decline in the overall quality of oocytes.

Light- and drug-induced pupillary dynamics in eyes with a retropupillary iris-claw intraocular lens.

PURPOSE: We evaluated the pupillary characteristics and response to light and drugs in eyes with posterior chamber (PC) placement of iris-claw intraocular lens (IC-IOL). METHODS: In this cross-sectional, comparative study, we included adults with an IC-IOL implanted in the PC of a single eye. We excluded patients with ocular trauma, postoperative IC-IOL displacement or complications, and extended iris atrophy. We used anterior segment optical coherence tomography to perform light-controlled pupillography, measure the pupil diameter (PD), and estimated the pupil circularity under mesopic conditions. PD was also assessed under photopic, scotopic, pharmacological mydriasis, and miosis conditions. The results were compared to those of the fellow eye, phakic, or regular pseudophakic. RESULTS: The IC-IOL and control groups included 30 eyes each. The most frequent reasons for IC-IOL implantation were complicated cataract (37%) and dislocated/luxated prior IOL (33%). Compared to the control group, the IC-IOL group had lower visual acuity, a smaller PD under scotopic conditions (p = 0.0010) and after pharmacological mydriasis (p < 0.0001), and a larger PD after pharmacological miosis (p < 0.0001). Mesopic pupil circularity was comparable between the groups. We also considered ongoing extraocular treatments with possible effects on iris motility. CONCLUSIONS: The pupillary size and profile were similar between the groups in mesopic light. Reduced mydriasis was noted in response to light and drugs, while the degree of miosis was reduced in response to inducing drugs in the IC-IOL compared to the control group. This study complements previous results concerning the PC placement of IC-IOLs by adding original observations on drug-induced pupil motility.

Comparison of pupillary diameter variation between conventional phacoemulsification versus femtosecond laser-assisted cataract surgery / Comparação da variação do diâmetro pupilar entre cirurgia de catarata por facoemulsificação convencional versus cirurgia assistida por laser de femtosegundo

ABSTRACT Purpose: To evaluate and compare variations in pupillary diameter before and after cataract surgery by conventional phacoemulsification versus femtosecond laser assisted cataract surgery, using LDV Z8 (Ziemer Ophthalmic). We also evaluated the relationship between pupillary diameter and surgery time and ultrasound time. Methods: Prospective comparative study, carried out at the Center of Excellence in Ophthalmology, Brazil. We included 79 eyes of 67 patients with nuclear opacity. The patients were divided into the control and study groups, including those who underwent cataract surgery with manual phacoemulsification, and femtosecond laser assisted cataract surgery, respectively. All surgeries were performed by the same experienced surgeon. All patients received topical non-steroidal anti-inflammatory drugs on the day before surgery and the same mydriatic eye drops preoperatively. To quantify pupillary size, measurements were performed using a surgical compass: anterior to the phacoemulsification procedure and at the end of the surgery. In the study group, measurements after laser were added. Surgical time and phacoemulsification time were also analyzed. Results: No significant difference was found between the pre-femto × pre-phaco pupil size (8.69 ± 0.44 mm × 8.63 ± 0.72 mm; p=0.643), and the pupil size at the end of surgery (7.96 ± 0.98 mm × 7.78 ± 0.95 mm; p=0.480) and the mean time of surgery (p=0.780). However, in the femtosecond laser assisted cataract surgery group, a transient increase in pupillary diameter after laser treatment was observed, indicating a tendency for greater variation in the femto group. Conclusions: Although pupil size diameter was similar at the end of surgery, the femtosecond laser assisted cataract surgery group presented higher intraoperative pupil variation. The surgeon should be aware of pupil size diameter before surgery for better and safer performance of femtosecond laser assisted cataract surgery.

RESUMO Objetivo: Avaliar e comparar a variação do diâmetro pupilar antes e após a cirurgia de catarata por facoemulsificação convencional versus cirurgia de catarata assistida por laser de femtossegundo, usando o LDV Z8 (Ziemer Ophtalmic). Também avaliamos a relação entre o diâmetro pupilar com o tempo da cirurgia e o tempo de ultrassom. Métodos: Estudo comparativo prospectivo, realizado no Centro de Excelência em Oftalmologia, Brasil. Foram incluídos 79 olhos de 67 pacientes com opacidade nuclear. Os mesmos foram divididos em Grupo Controle, que foi submetido a cirurgia de catarata com facoemulsificação manual, e Grupo Estudo, com catarata assistida por laser de femtossegundo. Todas as cirurgias foram realizadas pelo mesmo cirurgião experiente. Todos os pacientes receberam antiinflamatório não esteróide tópico no dia anterior à cirurgia e o mesmo colírio midriático no pré-operatório. Para quantificar o tamanho da pupila, as medidas foram realizadas usando um compasso cirúrgico: anterior ao procedimento de facoemulsificação e ao final da cirurgia. No grupo de estudo, medidas após o laser foram adicionadas. O tempo cirúrgico e o tempo de facoemulsificação também foram analisados. Resultados: Não foi encontrada diferença significativa entre o tamanho da pupila pré-femto x pré-faco (8,69 ± 0,44 mm x 8,63 ± 0,72 mm; p=0,643), bem como o tamanho da pupila no final da cirurgia (7,96 ± 0,98 mm x 7,78 ± 0,95 mm; p=0,480) e o tempo médio de cirurgia (p=0,780). No entanto, no grupo de catarata assistida por laser de femtossegundo, houve um aumento transitório do diâmetro pupilar após o laser, indicando uma tendência para maior variação no grupo femto. Conclusões: Embora o diâmetro pupilar fosse semelhante ao final da cirurgia, o grupo com catarata assistida por laser de femtossegundo apresentou maior variação intraoperatória da pupila. Portanto, para uma cirurgia de catarata assistida por laser de femtossegundo mais eficiente e segura, o cirurgião deve estar ciente do tamanho do diâmetro pupilar antes do procedimento.

The evaluation of patient demographics, etiologies and apraclonidine test results in adult Horner's syndrome.

PURPOSE: We aimed to demonstrate the patient demographics, etiologies and apraclonidine test results in adult Horner's syndrome. METHODS: This retrospective study was performed by the analysis of medical data of patients who were given 0.5% apraclonidine test. Patients' past medical history, demographic data, etiologies, accompanying neurological findings and pharmacological test results were assessed. RESULTS: Forty patients (21 females and 19 males) with a mean age of 50.3 ± 11.6 years were evaluated. Apraclonidine 0.5% test was positive in 37 patients (92.5%). An etiology could be identified in 20 patients (central [9 patients, 45%], preganglionic [9 patients, 45%] and postganglionic [2 patients, 10%]). Neurological findings accompanying Horner's syndrome were present in 8 patients. CONCLUSION: Despite detailed investigations, in a significant number of patients with Horner's syndrome an underlying cause may not be detected. Among the identifiable lesions, central and preganglionic involvements are still the first leading causes of Horner's syndrome. In addition, apraclonidine test may not be positive in all patients and a negative response does not exclude Horner's syndrome.

Elevated customary alcohol consumption attenuates opioid effects.

BACKGROUND: Regular alcohol consumption is on the rise among older adults and has the potential of altering the subjective experience of pain and response to pain medications. This study examined the cognitive, analgesic and side effect response to oxycodone in middle age and older adults with elevated levels of customary alcohol consumption in a human laboratory setting. METHODS: After refraining from alcohol for one day, eligible participants underwent baseline assessment cognition and side effects by means of questionnaires that were repeated at three time points (90 min, 5 and 8 h) following administration of a 10 mg oral dose of oxycodone. Response to pain stimulus (Cold Pressor Test (CPT)), pupil size, and plasma oxycodone were also measured. RESULTS: One hundred twenty-eight adults (age 35-85) completed the study day. Compared to those with lower customary alcohol consumption, participants with elevated alcohol consumption showed attenuated opioid-induced pupil constriction and cognitive decline on objective measures of working memory, sustained attention, inhibitory control, coordination on a simulated driving task, and subjective dysphoric effects with enhanced subjective euphoric effects. Oxycodone pharmacokinetics, pain tolerance to CPT, and Berg balance were impacted comparably between alcohol consumption groups. Women endorsed greater negative drug effects, whereas men endorsed positive drug effects. CONCLUSION: Independent of subject's age, elevated customary alcohol consumption attenuates opioid central effects (i.e., pupil miosis, impaired cognition) and gender influences subjective drug effects. Clinicians should consider alcohol consumption and gender when prescribing opioid medications.

A Novel Method for Measuring the Pupil Diameter and Pupillary Light Reflex of Healthy Volunteers and Patients With Intracranial Lesions Using a Newly Developed Pupilometer.

Background: Physicians currently measure the pupil diameter and the pupillary light reflex with visual observations using a ruler and a traditional penlight, leading to possibly inaccurate and subjective assessments. Although a mobile pupillometer has been developed and is available in clinical settings, this device can only assess one pupil at a time. Hence, an indirect pupillary light reflex, including those under irradiation to the opposite side of pupil, cannot be evaluated. Consequently, we have developed a new automatic mobile pupilometer, the Hitomiru®, with Hitomiru Co., Ltd. (Tokyo, Japan). This device is a two-glass type pupilometer with a video recording system. The pupil diameter and light reflex of both pupils can be measured simultaneously; therefore, both indirect and direct light reflexes can be assessed. Purpose: To evaluate the clinical ability of the Hitomiru® pupilometer to assess the pupil diameter and the pupillary light reflex of healthy volunteers and patients with intracranial lesions in an intensive care unit (ICU). Methods: Twenty-five healthy volunteers and five ICU patients with intracranial lesions on only the left side were assessed using the Hitomiru® pupilometer. The protocol was as follows: infrared light was applied to both pupils, followed by visible light to the right pupil, infrared light to both pupils, visible light to the left pupil, and then infrared light to both pupils. All the intervals were 2 s, and the dynamics of pupil diameters on both sides were continuously recorded. Results: The healthy adults had approximately 0.5 mm anisocoria, miosis was harder, and mydriasis was less with increased age. There were several differences in miosis rates, miosis times, and mydriasis rates between the healthy adults and the patients with intracranial lesions with both direct irradiation and indirect irradiation. Conclusions: The initial trial estimated and digitally recorded direct and indirect light reflexes, including rapidity of miosis after direct and indirect lights on, and mydriasis after direct and indirect lights off. The Hitomiru® pupilometer was a useful device to digitally record and investigate the relationship between pupil reflexes and intracranial diseases.

Horner's Syndrome After Anterior Decompression and Fusion for Cervical Spine Pathologies: Report of Two Cases.

Horner's syndrome is caused by impairment of the sympathetic trunk, resulting in associated ptosis, miosis, and anhidrosis. The cervical sympathetic trunk is sometimes damaged during an anterior approach to the lower cervical spine. We report two cases of Horner's syndrome after anterior decompression and fusion for lower cervical spine pathologies. Case 1 was in a 58-year-old woman with a herniated C5-6 intervertebral disc presenting myelopathy who underwent anterior cervical discectomy and fusion of C5-6. After the operation, miosis and anhidrosis of the right face occurred, and the symptoms continued for more than 15 years. Case 2 was in a 40-year-old woman whose diagnosis was flexion myelopathy with kyphosis at C5-6 and canal stenosis, so she underwent anterior cervical C5-6 discectomy and fusion of C5-6. Immediately after surgery, ptosis and miosis occurred, which lasted for four months. Horner's syndrome tends to occur during anterior cervical spine procedures, especially at the lower level, and the syndrome may be transient or irreversible. During an anterior approach to the lower cervical spine, taking care not to damage the sympathetic trunk is important to avoid this complication.

Effect of over-the-counter brimonidine tartrate 0.025% ophthalmic solution on pupil size in healthy adults.

PURPOSE: To evaluate the effect of brimonidine tartrate 0.025% ophthalmic solution on pupil size under scotopic conditions in healthy adults METHODS: Pupil size was measured in 56 eyes of 28 volunteer participants using a pupillometer under scotopic conditions. Age, gender, and iris color were recorded. Subjects using any ophthalmic medications other than artificial tears were excluded. The pupil size was subsequently measured again under scotopic conditions 60 min after instillation of brimonidine tartrate 0.025% ophthalmic solution. RESULTS: Statistically significant miosis was seen after instillation of brimonidine tartrate 0.025% (p = 0.04). Average pupil size prior to brimonidine 0.025% instillation was 7.28 ± 1.05 mm, and average pupil size after instillation of brimonidine 0.025% was 6.36 ± 1.68 mm, a reduction of - 23.7% in pupil area. Subjects with light irides demonstrated a greater miotic effect than subjects with dark irides (1.55 mm vs. 0.67 mm, p < 0.0001), with a pupil area reduction of - 37.6% and - 17.4%, respectively. The amount of miosis was independent of initial pupil size. CONCLUSIONS: Brimonidine tartrate 0.025% causes significant miosis in scotopic settings, although the effect is not as great in darker colored eyes. Further studies are needed to determine the latency and duration of the effect and whether the amount of miosis is clinically significant.

Effects of Miosis on Anterior Chamber Structure in Glaucoma Implant Surgery.

We investigated changes in anterior chamber (AC) structure after miosis in phakic eyes and pseudophakic eyes with glaucoma. In this prospective study, patients scheduled for glaucoma implant surgery were examined using anterior segment optical coherence tomography before and after miosis. Four AC parameters (AC angle, peripheral anterior chamber (PAC) depth, central anterior chamber (CAC) depth, and AC area) were analyzed before and after miosis, and then compared between phakic and pseudophakic eyes. Twenty-nine phakic eyes and 36 pseudophakic eyes were enrolled. The AC angle widened after miosis in both the phakia and pseudophakia groups (p = 0.019 and p < 0.001, respectively). In the phakia group, CAC depth (p < 0.001) and AC area (p = 0.02) were significantly reduced after miosis, and the reductions in PAC depth, CAC depth, and AC area were significantly greater than in the pseudophakia group (all p < 0.05). Twenty-five patients (86.2%) in the phakia group and 17 (47.2%) in the pseudophakia group had reduced CAC depth (p = 0.004). Although miosis increased the AC angle in both groups, AC depth decreased in most phakic eyes and a substantial number of pseudophakic eyes. Preoperative miosis before glaucoma implant surgery may interfere with implant tube placement distant from the cornea during insertion into the AC.

Congenital Microcoria: Clinical Features and Molecular Genetics.

Iris integrity is required to regulate both the amount of light reaching the retina and intraocular pressure (IOP), with elevated IOP being a major risk factor for glaucoma. Congenital microcoria (MCOR) is an extremely rare, autosomal dominant disease affecting iris development and hindering both of these functions. It is characterized by absent or underdeveloped dilator muscle fibers and immaturity of the iridocorneal angle-where the aqueous humor is drained-which play a central role in IOP regulation. The dilator muscle anomaly is manifested in pinhole pupils (<2 mm) and thin transilluminable irises, causing both hemeralopia and photoaversion. Axial myopia and juvenile open-angle glaucoma are very frequent (80% and 30% of all cases, respectively). It has been suggested that the immaturity of the chamber angle contributes to glaucoma, and myopia has been ascribed to photoaversion and elevated IOP. Though possible, these mechanisms are insufficient. The disease has been tied to chromosome 13q32.1 structural variations. In addition to compromising iris development, modification of the 13q32.1 architecture could alter signaling pathways for axial ocular length and IOP regulation. Here, we summarize the clinical, histological, and molecular features of this disease, and we discuss the possible etiology of associated anomalies.