A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fibre layer with loss of optic nerve fibres manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14.
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No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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Code Flag
3728155011
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
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false
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3728156012
Retinal dystrophy with inner nuclear layer and ganglion cell anomalies