Macular Colobomata: Comparison of Clinical and Optical Coherence Tomography Features With Serologic Results.

PURPOSE: To assess the correlation between the morphologic features and serology in eyes with macular colobomata (MC). DESIGN: Retrospective comparative case series. METHODS: Setting: Institutional. STUDY POPULATION: Patients presenting with MC to the retina clinic over a period of 2 years (January 2016 to December 2017). Interventional/Observational Procedure: Color fundus and swept-source optical coherence tomography (SSOCT) features were reviewed and assessed in 3 groups based on the serum IgG results: positive for Toxoplasma, positive for cytomegalovirus (CMV), and serology negative. MAIN OUTCOME MEASURE: Morphologic features on clinical and OCT-based examination. RESULTS: A total of 49 eyes of 27 patients were recruited. The mean age was 24.8 ± 14.9 years (range 7-60 years). While the lesion size, the presence of satellite lesions, choroidal excavation, and choroidal lacunae (large choroidal vessels) on SSOCT differed significantly among the groups, pigmentation, retinal fibrosis, shape, retinal vessel pattern, and choroidal vessel visibility did not vary significantly. The lesions in CMV serology-positive cases were mostly solitary (n = 8/8), large (n = 5/8) and deeply excavated (n = 8/8). The lesions in Toxoplasma serology-positive cases were mostly flat to shallow (n = 18/26), medium-sized (n = 19/26), and either a solitary lesion (n = 17/26) or multiple satellite lesions (n = 9/26). The lesions in serology-negative cases were mostly small to medium (n = 13/15), solitary (n = 15/15), deeply excavated lesions (n = 11/15) with choroidal lacunae (n = 8/15). CONCLUSIONS: The clinical and SSOCT features such as the lesion size, the presence of satellite lesions, choroidal excavation, and choroidal lacunae can provide a clue toward the etiology of macular colobomata.

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy and ocular colobomata. This combination of clinical signs and consanguineous pedigree structure suggested a genetic basis for the disease, a hypothesis that was tested using whole genome sequencing. Bi-allelic mutations in RBP4 were identified (c.248+1G>A), consistent with a diagnosis of inherited vitamin A deficiency. We describe a constellation of signs that appear to be characteristic for this disease, increasing clinical awareness of this rare condition.