Phenotype #0000302058

Individual ID	00409944
Associated disease	STGD
Phenotype details	neonatal diabetes; normal blood glucose control using insulin supplementation; slowly-progressive blurry vision, constriction of the visual field, difficulties seeing at night or in dim light, beginning in early childhood. Best corrected visual acuity - slow decrease during the exam period, ranging from 20/25 to 15/25; refractive error: no changes: -7.5D spherical with +3.0D cylindrical correction both eyes; visual field: 18y: perimetry showed concentric constriction of the visual field, sparing the central 30 degrees in both eyes; normal color recognition on pseudoisochromatic charts; anterior segment: regular oblique corneal astigmatism; corneal thickness near normal, with a central corneal thickness of 600 µm; no keratoconus; anterior chamber depth and angle: normal; funduscopy: optically clear media throughout the cornea, lens and vitreous; retinal pigmented epithelium: mottling at the posterior pole and diffuse atrophy in the periphery; no bone spicule, no pigment clumping; optic disc slightly pale but near normal appearance; diameter of retinal vessels normal, central foveal spot enlarged, no diabetic retinopathy; fundus autofluorescence: a dark fovea surrounded by a hyperreflective ring, as seen in other hereditary retinal dystrophies; increased autofluorescence of the choroid, mottling of the retinal pigment epithelium in the posterior pole; optical coherence tomography: reduced retinal thickness; outside the fovea, the neurosensory retina lacked the external limiting membrane, photoreceptorouter segment, and photoreceptor inner segment; progressive loss of cone photoreceptors. electroretinography: response not detectable
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-14 13:19:37 +02:00 (CEST)
Date last edited	N/A