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Macular dystrophy, X-linked

MedGen UID:
374323
•Concept ID:
C1839842
•
Disease or Syndrome
Synonym: Macular Dystrophy, X-Linked
 
Monarch Initiative: MONDO:0010646
OMIM®: 309100

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

Professional guidelines

PubMed

Topical Atropine for Childhood Myopia Control: The Atropine Treatment Long-Term Assessment Study.
Li Y, Yip M, Ning Y, Chung J, Toh A, Leow C, Liu N, Ting D, Schmetterer L, Saw SM, Jonas JB, Chia A, Ang M
JAMA Ophthalmol 2024 Jan 1;142(1):15-23. doi: 10.1001/jamaophthalmol.2023.5467. PMID: 38019503Free PMC Article
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M, Georgiadis A, Michaelides M
Br J Ophthalmol 2023 Sep;107(9):1223-1230. Epub 2022 Aug 29 doi: 10.1136/bjo-2022-321903. PMID: 36038193
Stellate nonhereditary idiopathic foveomacular retinoschisis and an approach to the differential diagnosis of macular star.
Light JG, Pyfer MS, Salabati M, Mahmoudzadeh R, Wakabayashi T, Ho AC
Curr Opin Ophthalmol 2022 May 1;33(3):157-166. Epub 2022 Mar 2 doi: 10.1097/ICU.0000000000000844. PMID: 35239516

Recent clinical studies

Etiology

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. PMID: 35119454Free PMC Article
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
CD46: the 'multitasker' of complement proteins.
Yamamoto H, Fara AF, Dasgupta P, Kemper C
Int J Biochem Cell Biol 2013 Dec;45(12):2808-20. Epub 2013 Oct 9 doi: 10.1016/j.biocel.2013.09.016. PMID: 24120647
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

Non-vasogenic cystoid maculopathies.
Gaudric A, Audo I, Vignal C, Couturier A, Boulanger-Scemama É, Tadayoni R, Cohen SY
Prog Retin Eye Res 2022 Nov;91:101092. Epub 2022 Aug 1 doi: 10.1016/j.preteyeres.2022.101092. PMID: 35927124
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. PMID: 35119454Free PMC Article
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Juvenile Macular Degenerations.
Altschwager P, Ambrosio L, Swanson EA, Moskowitz A, Fulton AB
Semin Pediatr Neurol 2017 May;24(2):104-109. Epub 2017 May 23 doi: 10.1016/j.spen.2017.05.005. PMID: 28941524Free PMC Article
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.
Vijayasarathy C, Sardar Pasha SPB, Sieving PA
Prog Retin Eye Res 2022 Mar;87:100999. Epub 2021 Aug 11 doi: 10.1016/j.preteyeres.2021.100999. PMID: 34390869
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free PMC Article
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Microperimetry in Three Inherited Retinal Disorders.
Bagdonaite-Bejarano L, Hansen RM, Fulton AB
Semin Ophthalmol 2019;34(4):334-339. Epub 2019 May 30 doi: 10.1080/08820538.2019.1622025. PMID: 31146612

Prognosis

X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free PMC Article
New Insights Into Immunological Therapy for Retinal Disorders.
Takeda A, Yanai R, Murakami Y, Arima M, Sonoda KH
Front Immunol 2020;11:1431. Epub 2020 Jul 3 doi: 10.3389/fimmu.2020.01431. PMID: 32719682Free PMC Article
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Clinical prediction guides

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free PMC Article
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.
Vijayasarathy C, Sardar Pasha SPB, Sieving PA
Prog Retin Eye Res 2022 Mar;87:100999. Epub 2021 Aug 11 doi: 10.1016/j.preteyeres.2021.100999. PMID: 34390869
Peripheral fundus findings in X-linked retinoschisis.
Fahim AT, Ali N, Blachley T, Michaelides M
Br J Ophthalmol 2017 Nov;101(11):1555-1559. Epub 2017 Mar 27 doi: 10.1136/bjophthalmol-2016-310110. PMID: 28348004

Recent systematic reviews

Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.
Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Outcome measures in juvenile X-linked retinoschisis: A systematic review.
Grigg JR, Hooper CY, Fraser CL, Cornish EE, McCluskey PJ, Jamieson RV
Eye (Lond) 2020 Oct;34(10):1760-1769. Epub 2020 Apr 20 doi: 10.1038/s41433-020-0848-6. PMID: 32313171Free PMC Article

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