Choroidal and retinal thickness variations in ocular albinism

Purpose: To study the retinal and choroidal thickness variations on enhanced depth imaging optical coherence tomography scans in ocular albinism (OA) and compare with age?matched healthy subjects. Methods: This retrospective observational study had 48 eyes of 24 patients diagnosed clinically as OA and age, sex, and axial length?matched control healthy subjects. All patients underwent detailed ophthalmic examination and a single?line horizontal?raster enhanced depth imaging – optical coherence tomography scan (Spectralis, Heidelberg Engineering). Retinal and choroidal thickness was measured, compared, and analyzed between the two groups. Mann–Whitney U test was used for analysis between the two groups. P < 0.05 was considered significant. Results: The mean age was 28.3 ± 11.6 and 29.9 ± 10.6 years in the OA group and control group, respectively. Spherical equivalents ranged from ?8.5D to +10.5D in the OA group and from ?8.0D to +10.0D in the control group. The mean axial length between the two groups (P = 0.652) were comparable. The average retinal thickness (272 ± 34.3 vs. 213 ± 13.8 ?m; P < 0.001) was greater in the OA group as compared to controls. The mean choroidal thickness (184 ± 78.4 vs. 287 ± 46.4 ?m; P < 0.001) was significantly thinner in the OA group. Conclusion: Acquisition of OCT scans in OA can be challenging. This study showed that the subfoveal retinal thickness and choroidal thickness measured across the scans were significantly different in the OA group compared to controls. In the future, more studies are required to evaluate the role of the choroid and its relationship to emmetropization in albinism.

Nistagmo secundario a albinismo con compromiso ocular en paciente femenina: un desafío diagnóstico / Nystagmus secondary to albinism with ocular involvement in a female: a diagnostic challenge

INTRODUCCIÓN: El nistagmo infantil es infrecuente y representa un desafío diagnóstico para el pediatra. El albinismo es una de sus principales causas, siendo difícil de sospechar en ausencia de compromiso cutáneo evidente, especialmente en pacientes femeninas, debido a que tipo de herencia del albinismo ocular. OBJETIVO: Describir un caso de nistagmo secundario a albinismo con compromiso ocular aislado en paciente femenina, para discutir el enfoque diagnóstico pediátrico. CASO CLÍNICO: Paciente fe menino de 3 semanas de vida, sin antecedentes mórbidos, derivada a neuropediatra y oftalmólogo por movimientos oculares paroxísticos desde las 2 semanas, con estudio con electroencefalograma e imágenes cerebrales normales. A los 3 meses se confirmó translucencia iridiana, nistagmo y astigmatismo hipermetrópico. La valuación dermatológica descartó compromiso cutáneo. Evolucionó con inclinación cefálica hacia abajo y retraso del desarrollo de la coordinación, fue manejada con lentes de corrección y kinesioterapia. A los 3 años, destacaba mejoría de la agudeza visual, disminución del nistagmo y neurodesarrollo normal. La evaluación oftalmológica de ambos padres fue normal y no había antecedentes de nistagmo o albinismo en la familia. Por decisión de los padres no se realizó estudio genético. CONCLUSIÓN: El diagnóstico de nistagmo secundario a compromiso ocular del albinismo, aún en ausencia de afección cutánea, es clínico; el estudio genético permite confirmar la etiología, sin ser un examen imprescindible, a menos que se considere la planificación familiar. La pesquisa oportuna e intervención multidisciplinaria determinan un mejor pronóstico.

INTRODUCTION: Infantile nystagmus is an infrequent condition that represents a diagnostic challenge for the pediatri cian. Albinism is one of its main causes, being difficult to suspect in the absence of evident cutaneous involvement, especially in female patients, due to the inheritance type of ocular albinism. OBJECTIVE: To describe a case of nystagmus secondary to albinism with isolated ocular involvement in a female patient, in order to provide tools for pediatric approach and diagnosis. CLINICAL CASE: Three- weeks-old female patient, without morbid history, referred to a pediatric neurosurgeon and ophthal mologist due to paroxysmal eye movements since 2 weeks of age. The electroencephalogram and brain images were normal. In follow-up monitoring at 3 months, iris translucency, nystagmus, and hypermetropic astigmatism were confirmed. Dermatologic evaluation ruled out cutaneous invol vement. The patient developed cephalic downward inclination and coordination development de lay was confirmed, the patient was handled with corrective lenses and kinesiotherapy. In follow-up monitoring at 3 years, there was an improvement in visual acuity, decreased nystagmus and normal neurodevelopment. The ophthalmological evaluation of both parents was normal and there was no history of nystagmus or albinism in the family. Upon her parents' decision, no genetic study was ca rried out. CONCLUSION: The diagnosis of nystagmus secondary to ocular albinism, even in the absence of cutaneous involvement, is clinical. The genetic study allows confirming the etiology, without being an essential examination, unless family planning is considered. Timely research and multidisciplinary intervention determine a better prognosis.

Successful treatment of aggressive posterior retinopathy of prematurity with diode laser in ocular albinism: A case report

Oculocutaneous albinism is characterized by partial or complete absence of melanin in retinal pigment epithelium (RPE) and uveal melanocytes. Absence of typical fundal background from RPE and choroid makes it difficult to diagnose retinal disorders in ocular albinism. Lack of melanin in RPE makes the laser photocoagulation very challenging in these cases. This report presents a unique case of preterm infant of oculocutaneous albinism diagnosed as aggressive posterior retinopathy of prematurity (APROP), which was successfully treated with diode laser photocoagulation. The parameters of the laser used in this case were higher than usual, just enough to achieve blanching of retina. This report highlights the fact that the diagnosis of APROP and its treatment with laser is challenging in the presence of oculocutaneous albinism, but it is possible to achieve complete regression using diode laser at higher parameters.

A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome

Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13.5 yr old boy and sister with a same terminal deletion of Xp22.2 resulting in the absence of genes from the telomere of Xp to GPR143 of Xp22. The boy manifested the findings of all of the disorders mentioned above. We began a testosterone enanthate monthly replacement therapy. His sister, 11 yr old, manifested only Leri-Weill dyschondrosteosis, and had engaged in growth hormone therapy for 3 yr. To the best of our knowledge, this is the first report of a male with a 9.7 Mb terminal Xp deletion including the OA1 locus in Korea.

Clinical Manifestations of Foveal Hypoplasia

PURPOSE: To estimate the baseline demographic/ocular characteristics and associated findings of patients with foveal hypoplasia. METHODS: The medical records of 42 patients (84 eyes) who were clinically diagnosed with foveal hypoplasia were retrospectively reviewed. RESULTS: There were 28 males and 14 females with mode age at diagnosis of 1 (range, 0-60 years) year and a mean follow-up period of 9.7 +/- 5.4 years. At the first office visit, the most common complaints were ocular oscillation and face turn. There were 75 eyes (91.5%) with best corrected visual acuity worse than 0.3 at the first visit, but that number decreased to 55 eyes (67.1%) at the last follow-up (age range, 7-60 years). The absolute spherical equivalent of refractive errors was 2.89 +/- 2.96 diopters (D), and 71 eyes had astigmatism with a mean astigmatism of 2.1 +/- 1.1 D. Forty-two patients had associated diseases: 15 (35.7%) with aniridia, 16 (38.1%) with ocular albinism and 11 (26.2%) with oculocutaneous albinism. In addition, strabismus was found in 24 patients (57.1%). CONCLUSIONS: Diseases associated with foveal hypoplasia include aniridia, ocular albinism and oculocutaneous albinism. Since foveal hypoplasia is often associated with high refractive errors and poor vision, an early prescription of eyeglasses is mandatory for management of refractive amblyopia to ensure the development of the best corrected visual acuity.

Heterochromia in rabbit-heterochromia in a dutch pigmented rabbit / 国际眼科杂志(Guoji Yanke Zazhi)

· Heterochromia was observed in a six-month-old Dutch pigmented rabbit and the rabbit was examined for general and eye anomalies. The rabbit showed a blue eye with fundus hypochromia on the right and a brown eye with partial fundus hypochromia on the left. White fur (white forelock) was present, but deafness was not apparent although no objective audiologic examination was performed. Histology studies of both eyes revealed that significantly fewer pigment cells in iris stroma and less pigmentation in retinal pigment epithelium and choroid in the right eye than in the left eye.