ORPHA:54
X-linked recessive ocular albinism
Also known as: OA1 · Ocular albinism type 1 · Ocular albinism, Nettleship-Falls type · XLOA
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
292
71.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,125
Distinct authors in sample
Gene link
GPR143
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
X-linked ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0021019
- MeSH:C537863
- OMIM:300500
- UMLS:C0342684
- NCIT:C118785
Additional Mondo synonyms (4)
Nettleship-Falls syndrome · ocular albinism type 1 · ocular albinism, Nettleship-Falls type · ocular albinism, type I, Nettleship-Falls type
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — GPR143
- LiteraturePresent
292 matched papers (131 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 1 for broader category ocular albinism
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (GPR143).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
292
292 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
292 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
131 in the last 10 years · medium confidence · 71.1th percentile (publications denominator)
Phrase hits: 292 · MeSH hits: 0
Who's working on it?
1,125
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Ballabio A17 papers · 2017
TIGEM, Telethon Institute of Genetics and Medicine, Via Pietro Castellino 111, 80131 Napoli, Italy.
Papers in Europe PMC - 02Schiaffino MV16 papers · 2017
Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science Park, Milan, Italy. schiaffi@tigem.it
Papers in Europe PMC - 03Tacchetti C10 papers · 2017
Department of Experimental Medicine, University of Genoa Medical School, Via de Toni 14, 16132 Genoa, Italy.
Papers in Europe PMC - 04Marigo V9 papers · 2017
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via G. Campi 287, 41100 Modena, Italy.
Papers in Europe PMC - 05Surace EM8 papers · 2017
Telethon Institute of Genetics and Medicine and the. Universitá Vita e Salute, San Raffaele, Milan, Italy.
Papers in Europe PMC - 06Wang Y8 papers · 2025
c Department of Ophthalmology , The Second Affiliated Hospital of Zhengzhou University , Zhengzhou , China.
Papers in Europe PMC - 07Farber DB7 papers · 2024
Stein Eye Institute and Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, United States of America.
Papers in Europe PMC - 08Bassi MT6 papers · 2001
Department of Molecular Biology, University of Siena, Italy.
Papers in Europe PMC - 09Giordano F6 papers · 2011
Institut Curie, Centre de Recherche, Paris F-75248, France.
Papers in Europe PMC - 10Wang Z6 papers · 2024
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1 trial are registered for ocular albinism, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
1 interventional trial matched ocular albinism, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: ocular albinism
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"X-linked recessive ocular albinism" OR "Ocular albinism type 1" OR "Ocular albinism, Nettleship-Falls type" OR "Nettleship-Falls syndrome" OR "ocular albinism, type I, Nettleship-Falls type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked recessive ocular albinism" OR "Ocular albinism type 1" OR "Ocular albinism, Nettleship-Falls type" OR "Nettleship-Falls syndrome" OR "ocular albinism, type I, Nettleship-Falls type" OR "GPR143" OR "X-linked recessive disease"
Recall-expansion terms: GPR143, X-linked recessive disease
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"ocular albinism"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OA1; XLOA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:15:19.682Z