92 RHO c.180C>A p.Tyr60* – [a] ROM1: f 31 RP ad no Ger c.178C>A p.Pro60Thr; – [42], [43] c.323C>T p.Thr108Met rs146358003 [42], [43] ABCA4: c.1654G>A p.Val552Ile rs145525174 [44] c.5714+5G>A RP2: splice rs61751407 [45] c.844C>T RPGRIP1: c.2510C>G p.Arg282Trp rs1805147 [17], [18] p.Ala837Gly – [22]
Case#: Eisenberger Patient 92, female, 31yo, German
DiseaseAssertion: Autosomal dominant RP
FamilyInfo: non-consanguineous
CasePresentingHPOs:
CaseHPOFreeText: "The diagnoses of all patients were established by medical history, family history and detailed clinical evaluation of vision. Ophthalmological examination included stereoscopic funduscopy, standard ERG, perimetry, measurement of dark adaptation, and determination of best-corrected visual acuity in most patients."
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: NGS for the exons of 55 RP and LCA genes, Sanger for confirmation
PreviouslyPublished: n/a
Variant: Allele 1: RHO c.180C>A p.Tyr60; Allele 2*: ROM1: c.178C>A p.Pro60Thr; c.323C>T p.Thr108Met;
ABCA4: c.1654G>A p.Val552Ile; c.5714+5G>A; <br /> RP2: c.844C>T p.Arg282Trp; <br /> RPGRIP1: c.2510C>G p.Ala837Gly
ClinVar:
CAID: CA239745
SupplementalData: n/a