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ORPHA:792

X-linked retinoschisis

medium confidenceDisorder

Also known as: X-linked juvenile retinoschisis · XLRS

Publications

1,533

86.8th percentile

Trials

7

Interventional, condition-specific

Researchers

1,036

Distinct authors in sample

Gene link

RS1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

X-linked juvenile retinoschisis type 1 · juvenile X-linked retinoschisis · retinoschisis, X-linked · retinoschisis, X-linked recessive

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — RS1

  2. LiteraturePresent

    1,533 matched papers (899 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Retinal pigment epithelial atrophy; Vitreous hemorrhage; ERG: Reduced dark-adapted b-wave amplitude) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. recombinant adeno-associated viral vector containing the human retinoschisin gene Source

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov (3 recruiting in sample)

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 (RS1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0010725

  • Retinal pigment epithelial atrophy
  • Vitreous hemorrhage
  • ERG: Reduced dark-adapted b-wave amplitude
  • Hyperautofluorescent retinal lesion
  • Strabismus

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA recombinant adeno-associated viral vector containing the human retinoschisin geneTreatment of X-linked juvenile retinoschisis · 12/03/2013 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0010725

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,533

1,533 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.

1,533 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).

899 in the last 10 years · medium confidence · 86.8th percentile (publications denominator)

Phrase hits: 1,531 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,036

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Drack AV8 papers · 2026

    Department of Ophthalmology and Visual Sciences, Institute for Vision Research, and Carver College of Medicine, University of Iowa, Iowa City, IA, United States.

    Papers in Europe PMC
  2. 02
    Hsu Y8 papers · 2026

    Department of Ophthalmology and Visual Sciences, Institute for Vision Research, and Carver College of Medicine, University of Iowa, Iowa City, IA, United States.

    Papers in Europe PMC
  3. 03
    Boon CJF7 papers · 2026

    Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.

    Papers in Europe PMC
  4. 04
    Chen J6 papers · 2026

    Aier Eye Institute, Changsha, Hunan, China; Key Laboratory of Regenerative Medicine, Ministry of Education, Jinan University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  5. 05
    Liu X6 papers · 2026

    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  6. 06
    Berrocal AM5 papers · 2026

    Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, Miami, Florida, USA.

    Papers in Europe PMC
  7. 07
    Ding X5 papers · 2026

    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, Guangdong, China dingxiaoyan@gzzoc.com.

    Papers in Europe PMC
  8. 08
    Duan C5 papers · 2026

    Aier Eye Institute, Changsha, Hunan, China; The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

    Papers in Europe PMC
  9. 09
    Ghosh A5 papers · 2026

    Molecular Signaling and Gene Therapy Unit, GROW Research Laboratory, Narayana Nethralaya Foundation, Narayana Nethralaya Eye Hospital, Bengaluru, Karnataka, India.

    Papers in Europe PMC
  10. 10
    Kim JH5 papers · 2026

    Fightagainst Angiogenesis-Related Blindness (FARB) Laboratory, Biomedical Research Institute, Seoul National University Hospital, Seoul 03080 South Korea; Department of Ophthalmology, Seoul National University College of Medicine, Seoul 03080 South Korea.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 4 trials are registered for retinoschisis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

medium confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: retinoschisis

4

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.

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 retinoschisis — 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 retinoschisis" OR "X-linked juvenile retinoschisis" OR "X-linked juvenile retinoschisis type 1" OR "juvenile X-linked retinoschisis" OR "retinoschisis, X-linked" OR "retinoschisis, X-linked recessive") OR ("RS1 syndrome" OR "RS1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"X-linked retinoschisis" OR "X-linked juvenile retinoschisis" OR "X-linked juvenile retinoschisis type 1" OR "juvenile X-linked retinoschisis" OR "retinoschisis, X-linked" OR "retinoschisis, X-linked recessive"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 7 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"retinoschisis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: XLRS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:22:04.275Z