PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.

PURPOSE: To present the scope of prenatal diagnosis and early treatment of patients with clinically heterogeneous phenotypic retinal dysplasia associated with NDP gene variants. METHODS: Retrospective. Review of electronic medical records. RESULTS: Twenty-nine-year-old woman known to carry a NDP gene variant presented to the eye clinic for consultation and risk assessment at her second pregnancy. Her 11-year-old son had bilateral retinal detachment, despite surgical treatment. The family declined prenatal testing. The patient was born full term, was examined, and underwent genetic testing after birth. He was found to have bilateral retinal avascular periphery abnormalities and preretinal hemorrhages on the left eye. The patient received bilateral laser treatment at 2 months of age. He was found to be doing well at 16 months after treatment with adequate visual acuity and flat maculae. The asymptomatic mother and maternal grandfather of the proband were found to have retinal periphery abnormalities with unremarkable posterior pole and excellent visual acuity. CONCLUSION: NDP gene variants associated with X-linked familial exudative vitreoretinopathy phenotype benefit from early treatment. Providers who take care of these patients need to monitor closely the pregnancy and delivery of a male child born to a female carrier to offer appropriate and timely treatment.

Dark without pressure retinal changes in a paediatric age group.

BACKGROUND/OBJECTIVES: We aim to describe the clinical and imaging characteristics of young children with dark without pressure- a well-defined area of dark retina in the mid periphery associated with attenuated hyperreflective outer segment bands on spectral domain OCT. SUBJECTS/METHODS: Retrospective medical chart review. We reviewed the charts and retinal images of children with dark without pressure (DWP) seen in the paediatric eye clinic that had undergone retinal imaging. RESULTS: We identified 6 children (3 males, 3 females) ranging in age from 3 to 13 years with DWP lesions. These were an incidental finding in children referred for other disorders. The lesions spared the macula and were typically in the mid-peripheral retina. In those children who could cooperate with detailed imaging, the DWP lesions were hypoautofluorecent on fundus autofluorescence imaging and OCT imaging showed reduced reflectance of the outer segments and EZ line as has been described in older children and adults. In two of the six subjects a DWP lesion appeared in an area of previously normal fundus; in no subjects did the lesion resolve over the period of follow up. CONCLUSIONS: The clinical and imaging characteristics of DWP lesions are similar in young children to those described in adults. The site of dysfunction appears to be at the level of the outer retina, but the precise cause is unknown. Recognition of this benign disorder will prevent patient anxiety and unnecessary further investigation.