A 25‐year‐old male presented to our hospital with a chief complaint of blurred vision in the right eye and significant night vision difficulties (nyctalopia) for 5 years.
Case#:patient, 25, male
DiseaseAssertion:Retinitis Pigmentosa
FamilyInfo:Unaffected brother with no variants, parents each heterozygous for one pathogenic variant in ABCA4
CasePresentingHPOs: HP:0000007, HP:0011462, HP:0007703, HP:0000662, HP:0007641
CaseHPOFreeText: Onset 20 year old. Gradual onset of blurred vision OD, dyschromatopsia. BCVA 1/20 OD 20/20 OS. Optic disc pale, retinal arteries and foveal reflex attenuated. Yellow deposits in perofoveal area and mid-peripheral retina, which showed mottled appearance OU. OCT - thinning of outer nuclear layer and disruption of ellipsoid zone with hyper-reflective flecks. Severe bilateral constriction in visual field. Hypofluorescence of optic disc OU
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
Genotyping Method: whole exome (Sanger segregation test)
PreviouslyPublished: n/a
Variant: NM_000350.3:c.4793C>A; NM_000350.3:c.1769A>G
ClinVar: 99321
CAID: CA341279788
SupplementalData: n/a