Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.

PURPOSE: To report two new cases with confirmed diagnosis of Heimler syndrome and describe their systemic and ophthalmic phenotype and visual rehabilitation. METHODS: Retrospective review of medical records. RESULTS: Both siblings were diagnosed as having sensori-neural hearing loss and retinal dystrophy with exuberant intraretinal cystoid spaces and cone-rod dysfunction. The older sibling also had amelogenesis imperfecta and neither had nail abnormalities. Genetic analysis identified homozygosity for the pathogenic variant c.2528G>A p.(Gly843Asp) in the PEX1 gene in both siblings. The parents were heterozygous carriers of the variant. CONCLUSIONS: The authors report a familial case of Heimler syndrome due to biallelic PEX1 pathogenic variants that manifested as macular dystrophy characterized by cone-rod dysfunction and complicated by intraretinal cystoid spaces. Review of the literature shows that ocular phenotype is variable in patients with Heimler syndrome. [J Pediatr Ophthalmol Strabismus. 2024;61(1):59-66.].

The role of early functional neuroimaging in predicting neurodevelopmental outcomes in neonatal encephalopathy.

Reliably assessing the early neurodevelopmental outcomes in infants with neonatal encephalopathy (NE) is of utmost importance to advise parents and implement early and personalized interventions. We aimed to evaluate the accuracy of neuroimaging modalities, including functional magnetic resonance imaging (fMRI) in predicting neurodevelopmental outcomes in NE. Eighteen newborns with NE due to presumed perinatal asphyxia (PA) were included in the study, 16 of whom underwent therapeutic hypothermia. Structural magnetic resonance imaging (MRI), and fMRI during passive visual, auditory, and sensorimotor stimulation were acquired between the 10th and 14th day of age. Clinical follow-up protocol included visual and auditory evoked potentials and a detailed neurodevelopmental evaluation at 12 and 18 months of age. Infants were divided according to sensory and neurodevelopmental outcome: severe, moderate disability, or normal. Structural MRI findings were the best predictor of severe disability with an AUC close to 1.0. There were no good predictors to discriminate between moderate disability versus normal outcome. Nevertheless, structural MRI measures showed a significant correlation with the scores of neurodevelopmental assessments. During sensorimotor stimulation, the fMRI signal in the right hemisphere had an AUC of 0.9 to predict absence of cerebral palsy (CP). fMRI measures during auditory and visual stimulation did not predict sensorineural hearing loss or cerebral visual impairment. CONCLUSION: In addition to structural MRI, fMRI with sensorimotor stimulation may open the gate to improve the knowledge of neurodevelopmental/motor prognosis if proven in a larger cohort of newborns with NE. WHAT IS KNOWN: • Establishing an early, accurate neurodevelopmental prognosis in neonatal encephalopathy remains challenging. • Although structural MRI has a central role in neonatal encephalopathy, advanced MRI modalities are gradually being explored to optimize neurodevelopmental outcome knowledge. WHAT IS NEW: • Newborns who later developed cerebral palsy had a trend towards lower fMRI measures in the right sensorimotor area during sensorimotor stimulation. • These preliminary fMRI results may improve future early delineation of motor prognosis in neonatal encephalopathy.

OCT angiography findings in children with amblyopia.

PURPOSE: To compare the microstructure and vascularity of amblyopic eyes in children with their contralateral eye and with eyes from control children using optical coherence tomography angiography (OCT-A). METHODS: We conducted a prospective, cross-sectional evaluation of macular and optic disk vascular density and flow area using OCT-A (Avanti RTVue XR, Optovue Inc, Fremont, CA). Parameters were calculated using automated software. RESULTS: A total of 52 children were included: 26 subjects with amblyopia and 26 nonamblyopic controls. The amblyopic eye of subjects showed a statistically significant decrease in macular vascular density (P = 0.0171) of the superficial capillary plexus (SCP), in the optic disk flow area (P = 0.0195) and in the average retinal nerve fiber layer thickness (P = 0.0194) as well as a marginally statistically significant decrease in the macular flow area of the SCP (P = 0.0305) and in the optic density (P = 0.0279). Compared with randomly selected eyes of controls, amblyopic eyes showed a statistically significant decrease in the macular flow area of the SCP (P = 0.005) and of the deep capillary plexus (DCP; P = 0.002), in the macula vascular density of the SCP (P = 0.022), in the optic disk flow area (P = 0.004), and a marginally statistical significant increase in the area of foveal avascular zone of the DCP (P = 0.038). CONCLUSIONS: In our study cohort amblyopic eyes manifested significant differences in macular and optic disk vascularization. The clinical significance of these findings warrants further research.

Low-vision aids improve the visual performance of children with bilateral chorioretinal coloboma.

PURPOSE: To quantify the improvements in visual performance for both distance and near tasks attained by children with bilateral chorioretinal coloboma (CRC) with use of low-vision aids (LVAs). METHODS: This was a hospital-based, cross-sectional, interventional case series of children with bilateral CRC. Demographic data were collected through a structured questionnaire and review of medical records. Distance and near best-corrected visual acuity, contrast sensitivity, and reading speed were evaluated with refractive correction alone and with the use of LVAs (Keplerian telescopes for distance; handheld magnifiers and a tinted lens [400 nm filter] for near). Effects are presented as medians of differences with 95% binomial-exact confidence intervals. RESULTS: Six children were included (median age, 11.5 years; range, 7-17 years), of whom 5 were already using LVAs on a daily basis. The use of a Keplerian telescope achieved a significant median improvement in distance best-corrected visual acuity of 0.75 logMAR (95% CI, 0.20-1.20). Contrast sensitivity was also improved across all tested spatial frequencies. Use of near LVAs resulted in a significant median improvement in near reading acuity of 0.47 logRAD (95% CI, 0.28-0.90). Critical print size and reading speed at N10 were also improved. CONCLUSIONS: LVAs enable meaningful improvements in the visual performance of children with bilateral CRC, allowing noteworthy increases in distance and near visual acuities as well as good reading speeds at small print sizes.

Medical and Surgical Treatment in Pediatric Orbital Myositis Associated with Coxsackie Virus.

Purpose. To report a case of orbital myositis associated with Coxsackie virus and its medical and surgical approach. Methods. Complete ophthalmological examination and imaging and analytical investigation were performed. Results. A 6-year-old male presented with subacute painless binocular horizontal diplopia. Examination revealed bilateral best-corrected visual acuity (BCVA) of 20/20 and right eye 45-prism-dioptre (PD) esotropia in near and distance fixations, with no motility restrictions. Serologic screening was positive for Coxsackie virus acute infection and computerized tomography (CT) suggested right eye medial rectus orbital myositis. An oral corticosteroid 1.0 mg/kg/day regimen was started. A new CT after two months showed symmetrical lesions in both medial rectus muscles. Corticosteroids were increased to 1.5 mg/kg/day. After imagiological resolution on the 4th month, alternating 45 PD esotropia persisted. Bilateral 7 mm medial rectus recession was performed after 1 year without spontaneous recovery. At 1-year follow-up, the patient is orthophoric with 200'' stereopsis and bilateral 20/20 BCVA. Conclusions. To our knowledge, this is the first reported case of orbital myositis associated with Coxsackie virus. This is also the first reported case of isolated strabismus surgery after orbital myositis in pediatric age, highlighting the favourable aesthetic and functional outcomes even in cases of late ocular motility disorders.

Trombose do seio dural em idade pediátrica / Dural sinus thrombosis in pediatric age

A trombose do seio dural é uma situação clínica rara, que resulta normalmente da complicação de processos infecciosos dos seios perinasais. Os sintomas e sinais são extremamente variados e inespecíficos sendo o diagnóstico feito através da ressonância magnética nuclear. Esse trabalho relata a ocorrência de trombose do seio dural em um paciente com idade pediátrica. Paciente com 10 anos de idade, sexo masculino, foi enviado ao serviço de urgência devido à diplopia e endotropia no olho esquerdo. No exame oftalmológico foi detectado papiledema bilateral, diplopia binocular e endotropia do olho esquerdo. Apresentava acuidade visual de 10/10 bilateralmente. Diante da suspeita de lesão ocupando espaço do sistema nervoso central, foi realizada ressonância magnética nuclear que confirmou o diagnóstico de TSD. Para avaliar a pressão intracraniana foi efetuada uma punção lombar com manometria, e esta demonstrou uma pressão intracraniana de 20mmHg (normal: <15mmHg). Perante isto a criança ficou internada para tratamento médico (enoxaparina de baixo peso molecular 1,5 mg/kg/dia subcutâneo (60 mg/dia), prednisolona 35 mg/dia oral e acetazolamida 250 mg/dia oral) durante 10 dias. Após 1 mês de follow-up verificou-se agravamento oftalmológico. A realização de nova punção lombar apresentou uma pressão intracraniana de 40 mmHg que não cedia ao tratamento médico. Após discussão multidisciplinar do caso optou-se pela realização de derivação lombo-peritoneal. A necessidade de uma grande dose de suspeição clínica, tanto para o diagnóstico inicial quanto para a monitorização das complicações, tornam a abordagem da trombose do seio dural um processo singular.

Dural sinus thrombosis is a rare condition, usually results from a late complication of an infection of the paranasal sinuses. The signs and symptoms are extremely varied and nonspecific, being the diagnosis made through magnetic resonance imaging. Ten-year-old male patient that was sent to our emergency department with left endotropia and diplopia. Ophthalmic examination was performed and showed papilledema with margin blurred right and left eye, binocular diplopia and left eye endotropia. Visual acuity was 10/10 bilaterally. Given the suspected space occupying lesion of the central nervous system, the MRI was performed and confirmed the diagnosis of DST. For evaluating the intracranial pressure (IP), a lombar puncture (LP) with manometry was carried out and revealed IP of 20 mmHg (normal values: <15mmHg). Towards this, the child’s was admitted for medical treatment (low molecular weight enoxaparin subcutaneous 1,5 mg/kg/day (60 mg/day), prednisolone 35 mg/per day and acetazolamide 250 mg/per day) over 10 days. After 1 month of follow-up there was deterioration of the ophthalmologic condition. A new LP was made and showed IP of 40 mmHg resilient to medical treatment. After multidisciplinary discussion of the case, it was decided for conducting lumboperitoneal shunt. The need for a great deal of suspicion for both the initial diagnosis and for monitoring complications make DST approach a special process.

Trombose parcial do seio cavernoso / Cavernous sinus thrombosis

A trombose do seio cavernoso (TSC) é uma situação clínica rara, resultando normalmente da complicação de um processo infeccioso dos seios paranasais. Outras causas incluem alterações pró-trombóticas, anemia e trauma. Os sinais e sintomas são extremamente variados e inespecíficos, sendo o seu diagnóstico efetuado através de ressonância magnética nuclear (RMN). Os autores apresentam um caso clínico de uma doente com 75 anos de idade, que recorre ao serviço de urgência devido à dor em olho direito vermelho associado à cefaléias frontais com quatro dias de evolução. Ao exame oftalmológico observou-se defeito pupilar aferente relativo no olho direito (OD); na biomicroscopia vasos episclerais dilatados, catarata nuclear e à fundoscopia um edema discreto da papila com apagamento do rebordo nasal, hemorragias punctiformes dispersas e tortuosidade vascular em OD. A realização de angio-RMN confirmou o diagnóstico tendo a doente sido tratada com enoxaparina. Apesar do tratamento da TSC ser um tratamento etiológico, foi demonstrado que a anticoagulação está associada à diminuição da taxa de mortalidade.

Cavernous sinus thrombosis (CST) is a rare condition, usually results from a late complication of an infection of the paranasal sinuses. Other causes include prothrombotic disorders, anemia and trauma. The signs and symptoms are extremely varied and nonspecific, being the diagnosis made through magnetic resonance imaging (MRI). The authors present a 75-year-old woman, admitted in the emergency room complaining of ocular pain in the right eye (RE), red eye and frontal headache. She presented on ophthalmic examination of the RE: dilated episcleral vessels, nuclear cataract and a relative afferent pupillary defect. Fundoscopy examination of the RE revealed disc edema with nasal disc margin blurred, small dot hemorrhages and vascular tortuosity. The MRI angiography confirmed the diagnosis and the patient was treated with low molecular weight heparin. Despite treatment of CST is directed to the causal situation, being shown that anticoagulation is associated with reduction in mortality.

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.

We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.

Twin anemia polycythemia sequence: a report of three cases.

BACKGROUND: Vascular anastomoses in monochorionic placentas are the key factor in the develop- ment of several complications, including twin anemiapolycythemia sequence (TAPS). TAPS is an uncommon form of chronic fetofetal transfusion, characterized by large intertwin hemoglobin (Hb) differences in the absence of amniotic fluid discordances. CASE: We report 3 unusual cases of spontaneous TAPS. Looking to the intertwin Hb differences, each case fits in a different stage of postnatal twin anemia-polycythemia classification. Five of the 6 twins had a good outcome despite major hemodynamic changes. CONCLUSION: Spontaneous TAPS is by far more infrequent than its postlaser counterpart. Our report is somewhat uncommon due to the fact that the 3 cases were spontaneous, consecutive, and each one fit as an example of the various degrees of severity according to the described classifications of this condition.