DeCure for Congenital stationary night blindness autosomal dominant 3
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital stationary night blindness autosomal dominant 3 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCongenital stationary night blindness autosomal dominant 3 maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for congenital stationary night blindness autosomal dominant 3 is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
What the evidence adds up to
A large Chinese family with autosomal dominant congenital stationary night blindness has been described, with the disorder transmitted through at least 12 generations and over 40 affected individuals identified. Electroretinogram data from that family show severely diminished b-wave responses to dim light, normal a-wave and subnormal b-wave responses to maximum light stimuli, and dark adaptation curves of three patients show a monophase curve typical for night blindness. The five previously known mutations in the three genes associated with autosomal dominant CSNB — RHO, PDE6B and GNAT1 — were excluded, and linkage studies excluded tight linkage between the disease locus and markers associated with these three genes, indicating a different causative gene in this family.
Congenital stationary night blindness is a rare nonprogressive retinal disorder characterised by congenitally impaired night vision and subnormal visual acuity, with associated clinical hallmarks including myopic refractive error, astigmatism, strabismus, and paradoxical pupillary responses; nystagmus may also be present. Incomplete CSNB is a rare subtype with only around 30 detailed clinical case descriptions published so far, and first symptoms such as nyctalopia, nystagmus, strabismus and markedly reduced visual acuity typically occur within the first year of life, with nystagmus usually being the first observable symptom.
One report from 1989 on X-linked congenital stationary night blindness noted that three of five affected patients in a study pedigree showed ocular findings of the incomplete type, while one patient showed findings more consistent with the complete type, including a nonrecordable rod b-wave, absent oscillatory potentials, and high myopia. The authors of that report assumed the incomplete type may be a variation of the complete type.
No drug treatment is mentioned in any of these abstracts. What is still missing for this autosomal dominant form is identification of the specific causative gene, which would be required before any molecular target could be considered, and no clinical trial or therapeutic strategy has been proposed for this or any other form of congenital stationary night blindness in these reports.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Ophthalmology · 1987 · 35 citations
Congenital Stationary Night Blindness Presenting as Leber's Congenital Amaurosis
AbstractTwo siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.
A Dominant form of Congenital Stationary Night Blindness (adCSNB) in a Large Chinese Family
AbstractSummary A pedigree of congenital stationary night blindness (CSNB) is described in a large Chinese family. The clinical description, pedigree, dark adaptation and elctroretinogram (ERG) studies indicate that the patients have an autosomal dominant form (ad) of CSNB. The disorder has been transmitted through at least 12 generations with over 40 affected individuals identified. The ERG data reveal that affected persons have severely diminished b‐wave responses to dim light, but normal a‐wave and subnormal b‐wave responses to maximum light stimuli. The dark adaptation curves of three patients show a monophase curve, typical for night blindness. We have excluded the five previously known mutations in the three genes ( RHO , PDE6B and GNAT1 ) associated with adCSNB, and linkage studies have excluded tight linkage between the disease locus and markers associated with these three genes. Thus, this family has adCSNB caused by a different gene from the previously identified RHO , PDE6B , and GNAT1 .
A Dominant form of Congenital Stationary Night Blindness (adCSNB) in a Large Chinese Family
AbstractA pedigree of congenital stationary night blindness (CSNB) is described in a large Chinese family. The clinical description, pedigree, dark adaptation and elctroretinogram (ERG) studies indicate that the patients have an autosomal dominant form (ad) of CSNB. The disorder has been transmitted through at least 12 generations with over 40 affected individuals identified. The ERG data reveal that affected persons have severely diminished b-wave responses to dim light, but normal a-wave and subnormal b-wave responses to maximum light stimuli. The dark adaptation curves of three patients show a monophase curve, typical for night blindness. We have excluded the five previously known mutations in the three genes (RHO, PDE6B and GNAT1) associated with adCSNB, and linkage studies have excluded tight linkage between the disease locus and markers associated with these three genes. Thus, this family has adCSNB caused by a different gene from the previously identified RHO, PDE6B, and GNAT1.
Abstract<h3>To the Editor.</h3> —I read with interest the report by Khouri et al<sup>1</sup>on X-linked congenital stationary night blindness that was published in the October 1988Archives. It is interesting that the incomplete type of congenital stationary night blindness, which we have reported previously,<sup>2</sup>was also found in the United States. The authors noted that three of the five affected patients in their study pedigree showed ocular findings of the incomplete type. However, in one patient (case IV-2) findings were more consistent with the complete type of congenital stationary night blindness. This result led to the assumption by Khouri et al that the incomplete type may be a variation of the complete type. In case IV-2, the diagnostic basis for the complete type of congenital stationary night blindness was, acccording to Khouri et al, a nonrecordable rod b-wave, absent oscillatory potentials, and high myopia. However, judging from the
Klinische Monatsblätter für Augenheilkunde · 2024 · 0 citations
A Case of Congenital Stationary Night Blindness in a Healthy Female Infant: Emphasis on Electroretinography
AbstractCongenital stationary night blindness (CSNB) is a rare nonprogressive retinal disorder characterised by congenitally impaired night vision and subnormal visual acuity. Important associated clinical hallmarks in CSNB are myopic refractive error, astigmatism, strabismus, and paradoxical pupillary responses. In some cases, nystagmus may also be present [1], [2].
Klinische Monatsblätter für Augenheilkunde · 2024 · 0 citations
Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy
AbstractCongenital stationary night blindness (CSNB) is an umbrella term for a clinically and genetically heterogeneous group of rare inherited retinal diseases (IRDs). Incomplete CSNB (iCSNB) is a rare subtype, with only around 30 detailed clinical case descriptions (excluding reports on female carriers) published so far [1], [2], [3], [4], [5]. First symptoms such as nyctalopia, nystagmus, strabismus and markedly reduced visual acuity (VA) typically occur within the first year of life, with nystagmus usually being the first observable symptom [6].
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
