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Reduced OCT-measured foveal thickness

MedGen UID:
892629
Concept ID:
C4073089
Finding
HPO: HP:0030619

Term Hierarchy

Conditions with this feature

Macular dystrophy, retinal, 4
MedGen UID:
1823960
Concept ID:
C5774187
Disease or Syndrome
Retinal macular dystrophy-4 (MCDR4) is characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization. Patients also exhibit extensive retinal dysfunction with impaired rod function (Zhou et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of retinal macular dystrophy, see MCDR1 (136550).

Recent clinical studies

Etiology

Fackler TK, Reddy S, Bearelly S, Stinnett S, Fekrat S, Cooney MJ
Ann Acad Med Singap 2006 Oct;35(10):701-5. PMID: 17102894

Therapy

Fackler TK, Reddy S, Bearelly S, Stinnett S, Fekrat S, Cooney MJ
Ann Acad Med Singap 2006 Oct;35(10):701-5. PMID: 17102894
Neubauer AS, Priglinger S, Ullrich S, Bechmann M, Thiel MJ, Ulbig MW, Kampik A
Retina 2001;21(6):596-601. doi: 10.1097/00006982-200112000-00006. PMID: 11756882

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