Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism
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Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism. / Kessel, Line; Kjer, Birgit; Lei, Ulrikke; Duno, Morten; Grønskov, Karen.
In: Ophthalmic Genetics, Vol. 42, No. 3, 2021, p. 230-238 .Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism
AU - Kessel, Line
AU - Kjer, Birgit
AU - Lei, Ulrikke
AU - Duno, Morten
AU - Grønskov, Karen
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - Albinism
KW - genotype
KW - ocular albinism
KW - oculocutaneous albinism
KW - phenotype
U2 - 10.1080/13816810.2021.1881979
DO - 10.1080/13816810.2021.1881979
M3 - Journal article
C2 - 33612058
AN - SCOPUS:85101211619
VL - 42
SP - 230
EP - 238
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
SN - 1381-6810
IS - 3
ER -
ID: 257973028