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Achromatopsia incomplete X-linked

MedGen UID:
419890
•Concept ID:
C2931753
•
Disease or Syndrome
Synonyms: Achromatopsia incomplete, X-linked; Incomplete achromatopsia , X-linked; X-linked achromatopsia, incomplete

Professional guidelines

PubMed

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M
Ophthalmol Retina 2024 Sep;8(9):932-941. Epub 2024 Mar 24 doi: 10.1016/j.oret.2024.03.017. PMID: 38522615

Recent clinical studies

Diagnosis

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
Thiadens AA, Somervuo V, van den Born LI, Roosing S, van Schooneveld MJ, Kuijpers RW, van Moll-Ramirez N, Cremers FP, Hoyng CB, Klaver CC
Invest Ophthalmol Vis Sci 2010 Nov;51(11):5952-7. Epub 2010 Jun 23 doi: 10.1167/iovs.10-5680. PMID: 20574029

Clinical prediction guides

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
Thiadens AA, Somervuo V, van den Born LI, Roosing S, van Schooneveld MJ, Kuijpers RW, van Moll-Ramirez N, Cremers FP, Hoyng CB, Klaver CC
Invest Ophthalmol Vis Sci 2010 Nov;51(11):5952-7. Epub 2010 Jun 23 doi: 10.1167/iovs.10-5680. PMID: 20574029

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