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ORPHA:54

X-linked recessive ocular albinism

medium confidenceDisorder

Also known as: OA1 · Ocular albinism type 1 · Ocular albinism, Nettleship-Falls type · XLOA

Publications

2,236

88.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,253

Distinct authors in sample

Gene link

GPR143

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — GPR143

  2. LiteraturePresent

    2,236 matched papers (1,190 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Strabismus; Visual impairment; Myopia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

22

Associated phenotypes · MONDO:0021019

  • Strabismus
  • Visual impairment
  • Myopia
  • Abnormal macular morphology
  • Astigmatism

Showing 5 of 22 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,236

2,236 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,236 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,190 in the last 10 years · medium confidence · 88.1th percentile (publications denominator)

Phrase hits: 292 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,253

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.

  1. 01
    Goshima Y11 papers · 2026

    Department of Molecular Pharmacology and Neurobiology, Graduate School of Medicine, Yokohama City University, Yokohama, 236-0004, Japan. Electronic address: goshima@yokohama-cu.ac.jp.

    Papers in Europe PMC
  2. 02
    Masukawa D11 papers · 2026

    Department of Molecular Pharmacology and Neurobiology, Graduate School of Medicine, Yokohama City University, Yokohama, 236-0004, Japan.

    Papers in Europe PMC
  3. 03
    Zhang X8 papers · 2026

    School of Life Sciences, Lanzhou University, Lanzhou, Gansu, 730000, China.

    Papers in Europe PMC
  4. 04
    Li Y7 papers · 2026

    College of Animal Science and Technology, Northeast Agricultural University,, Harbin, China.

    Papers in Europe PMC
  5. 05
    Wang Z6 papers · 2026

    MOE Key Laboratory of Metabolism and Molecular Medicine & Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, and Fudan University Shanghai Cancer Center, Shanghai Medical College of Fudan University, Shanghai, 200032, China.

    Papers in Europe PMC
  6. 06
    Zhang J6 papers · 2026

    Eye Institute of Shandong First Medical University, Qingdao Eye Hospital of Shandong First Medical University, 5 Yanerdao Road, Qingdao, Shandong, 266071, China.

    Papers in Europe PMC
  7. 07
    Arveiler B5 papers · 2026

    Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.

    Papers in Europe PMC
  8. 08
    Deng Y5 papers · 2025

    Fisheries Research Institute, Sichuan Academy of Agricultural Sciences (Sichuan Fisheries Research Institute), Chengdu 611731, China.

    Papers in Europe PMC
  9. 09
    Jia X5 papers · 2025

    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.

    Papers in Europe PMC
  10. 10
    Lasseaux E5 papers · 2026

    Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for X-linked recessive ocular albinism — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("GPR143" OR "GPR143 syndrome" OR "GPR143-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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