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Occult macular dystrophy(OCMD)

MedGen UID:
462183
•Concept ID:
C3150833
•
Disease or Syndrome
Synonyms: OCCULT MACULAR DYSTROPHY, SUSCEPTIBILITY TO; OCMD; OMD
SNOMED CT: Occult macular dystrophy (770667002); OCMD - occult macular dystrophy (770667002); OMD - occult macular dystrophy (770667002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): RP1L1 (8p23.1)
 
HPO: HP:0030636
Monarch Initiative: MONDO:0013316
OMIM®: 613587
Orphanet: ORPHA247834

Definition

Occult macular dystrophy (OCMD) is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina (summary by Piao et al., 2000). [from OMIM]

Clinical features

From HPO
Macular dystrophy
MedGen UID:
196451
•Concept ID:
C0730292
•
Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
See: Feature record | Search on this feature
Slow decrease in visual acuity
MedGen UID:
343976
•Concept ID:
C1853141
•
Finding
See: Feature record | Search on this feature
Abnormal full-field electroretinogram
MedGen UID:
892525
•Concept ID:
C4072956
•
Finding
See: Feature record | Search on this feature
Abnormal multifocal electroretinogram
MedGen UID:
892908
•Concept ID:
C4072958
•
Finding
See: Feature record | Search on this feature
Abnormal fundus fluorescein angiography
MedGen UID:
892879
•Concept ID:
C4073074
•
Finding
An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOccult macular dystrophy
Follow this link to review classifications for Occult macular dystrophy in Orphanet.

Professional guidelines

PubMed

Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K
Invest Ophthalmol Vis Sci 2016 Sep 1;57(11):4837-46. doi: 10.1167/iovs.16-19670. PMID: 27623337
Characterizing the phenotype and genotype of a family with occult macular dystrophy.
Chen CJ, Scholl HP, Birch DG, Iwata T, Miller NR, Goldberg MF
Arch Ophthalmol 2012 Dec;130(12):1554-9. doi: 10.1001/archophthalmol.2012.2683. PMID: 23229695Free PMC Article

Recent clinical studies

Etiology

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Inherited Macular Dystrophies in a Tertiary Care Centre.
Shrestha P, Pradhan E, Pradhan PMS, Thapa R, Bajimaya S, Sharma S, Duwal S, Paudyal G
J Nepal Health Res Counc 2020 Apr 20;18(1):88-92. doi: 10.33314/jnhrc.v18i1.2368. PMID: 32335599
Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.
Wang DD, Gao FJ, Li JK, Chen F, Hu FY, Xu GZ, Zhang JG, Sun HX, Zhang SH, Xu P, Tian GH, Wu JH
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):10. doi: 10.1167/iovs.61.3.10. PMID: 32176261Free PMC Article
Clinical and genetic characteristics of Korean occult macular dystrophy patients.
Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001

Diagnosis

Biallelic occult macular dystrophy.
Ghali N, Khan AO
Ophthalmic Genet 2024 Aug;45(4):401-403. Epub 2024 Jun 4 doi: 10.1080/13816810.2024.2352376. PMID: 38831741
Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Occult Macular Dystrophy: a case report and major review.
Luoma-Overstreet G, Jewell A, Brar V, Couser N
Ophthalmic Genet 2022 Oct;43(5):703-708. Epub 2022 Jun 29 doi: 10.1080/13816810.2022.2089361. PMID: 35765812
Case Report: Occult Macular Dystrophy.
Toland A
Optom Vis Sci 2022 Apr 1;99(4):405-412. doi: 10.1097/OPX.0000000000001858. PMID: 35001063
Occult macular dystrophy.
Miyake Y, Horiguchi M, Tomita N, Kondo M, Tanikawa A, Takahashi H, Suzuki S, Terasaki H
Am J Ophthalmol 1996 Nov;122(5):644-53. doi: 10.1016/s0002-9394(14)70482-9. PMID: 8909203

Therapy

Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.
Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group
Br J Ophthalmol 2021 Sep;105(9):1272-1279. Epub 2021 Apr 20 doi: 10.1136/bjophthalmol-2020-318544. PMID: 33879469Free PMC Article
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).
Takahashi H, Hayashi T, Tsuneoka H, Nakano T, Yamada H, Katagiri S, Fujino Y, Noda Y, Yoshimoto M, Kawashima H
Doc Ophthalmol 2014 Aug;129(1):49-56. Epub 2014 May 17 doi: 10.1007/s10633-014-9443-0. PMID: 24838559

Prognosis

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings.
Nakamura N, Tsunoda K, Mizuno Y, Usui T, Hatase T, Ueno S, Kuniyoshi K, Hayashi T, Katagiri S, Kondo M, Kameya S, Yoshitake K, Fujinami K, Iwata T, Miyake Y
Invest Ophthalmol Vis Sci 2019 Nov 1;60(14):4691-4700. doi: 10.1167/iovs.19-27486. PMID: 31725168
Clinical and genetic characteristics of Korean occult macular dystrophy patients.
Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H
Optom Vis Sci 2012 May;89(5):684-91. doi: 10.1097/OPX.0b013e31824eea32. PMID: 22504327

Clinical prediction guides

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Photoreceptor-Specific Temporal Contrast Sensitivities in RP1L1-Associated Occult Macular Dystrophy.
Huchzermeyer C, Fars J, Kremers J, Kühlewein L, Kempf M, Ott S, Stingl K, Stingl K
Invest Ophthalmol Vis Sci 2023 Jun 1;64(7):33. doi: 10.1167/iovs.64.7.33. PMID: 37342031Free PMC Article
Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.
Wang DD, Gao FJ, Li JK, Chen F, Hu FY, Xu GZ, Zhang JG, Sun HX, Zhang SH, Xu P, Tian GH, Wu JH
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):10. doi: 10.1167/iovs.61.3.10. PMID: 32176261Free PMC Article
Clinical and genetic characteristics of Korean occult macular dystrophy patients.
Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001

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    • ClinVar
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      Related information in NCBI Gene
    • GTR
      Related information in GTR
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      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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