Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  2. Vitamin A in Stargardt disease-an evidence-based update

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Leber hereditary optic neuropathy due to a new ND1 mutation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Blue cone monochromatism in a female due to skewed X-inactivation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Myopathy can be a key phenotype of membrin (GOSR2) deficiency

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

BACKGROUND: The study aimed to describe genotype-phenotype associations in patients with oculocutaneous and ocular-only albinism and to evaluate a set of diagnostic criteria proposed recently by Kruijt et al.

MATERIALS AND METHODS: Genotype-phenotype associations in patients with a clinical diagnosis of albinism were studied based on imaging of hair and ocular features (nystagmus, iris color and translucency, fundus pigmentation and foveal development) and self-evaluated skin type. Patients were sub-grouped based on genetic findings.

RESULTS: Patients with biallelic variants in TYR (n = 29), OCA2 (n = 22), other albinism genes (n = 13) or monoallelic variants in GPR143 (n = 13) were included as were 15 patients with a pure clinical diagnosis but no genetic findings. In descending order the most common findings were: foveal hypoplasia (any hypoplasia 95.2%, severe 88.0%), nystagmus (93.5%), iris translucency (any translucency 80.2%, moderate to severe 31.5%), misrouting on VEP (80.0%): fundus hypopigmentation (any hypopigmentation: 75.8%, severe 30.1%), fair skin type (73.8%), blue irides (62.0%), blonde hair (57.5%), and unpigmented eye lashes (39.1%). There were no phenotypic differences between the different genetic subgroups of albinism but patients with a pathogenic haplotype in TYR in combination with a classic variant had less iris translucency than patients with two classic variants in TYR.

CONCLUSIONS: Ocular developmental features were the most common findings whereas phenotypic features related to pigmentation were less common findings but there were no genotype-phenotype correlations. All patients with a genetically confirmed diagnosis of albinism fulfilled the diagnostic criteria by Kruijt irrespective of genetic subtype.

OriginalsprogEngelsk
TidsskriftOphthalmic Genetics
Vol/bind42
Udgave nummer3
Sider (fra-til)230-238
Antal sider9
ISSN1381-6810
DOI
StatusUdgivet - jun. 2021

ID: 64276244