Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of
photoreceptor function and contributes significantly to the etiology of blindness globally but …

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of
blindness. They result from mutations in many genes which has long hampered comprehensive …

Bardet–Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable
genetic heterogeneity that characterizes this disease is consistent with accumulating data on …

Myopia is an extremely common eye disorder but the pathogenesis of its isolated form,
which accounts for the overwhelming majority of cases, remains poorly understood. There is …

Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile
glaucoma should undergo genetic testing because of variable expressivity for the phenotype; …

Importance Infantile cataract surgery bears a significant risk for postoperative glaucoma, and
no consensus exists on factors that may reduce this risk. Objective To assess the effect of …

Purpose: Retinal dystrophies (RD) are heterogeneous hereditary disorders of the retina that
are usually progressive in nature. The aim of this study was to clinically and molecularly …

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia,
ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a …

Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated,
cataract can be part of many multisystem disorders, further complicating the diagnostic …

PURPOSE: To evaluate the effect of intraoperative mitomycin-C (MMC) on polypropylene
Ahmed glaucoma valve (AGV) survival 2 years after implantation during the first 2 years of life. …