X-linked recessive ocular albinism
Synonyms: OA1 | Ocular albinism type 1 | Ocular albinism, Nettleship-Falls type | XLOA
X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation foveal hypoplasia nystagmus photodysphoria and reduced visual acuity in males.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
X-linked recessive ocular albinism?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Vision for Tomorrow Foundation
VFT is committed to funding promising research on aniridia and albinism and supporting families affected by these challenging genetic conditions.
Clinical Trials
For a list of clinical trials in this disease area, please click here.