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Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features

MedGen UID:
1680314
•Concept ID:
C5193232
•
Disease or Syndrome
Synonym: Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features
 
Monarch Initiative: MONDO:0013055
OMIM®: 612948

Professional guidelines

PubMed

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC
J Med Genet 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. PMID: 37580113

Recent clinical studies

Etiology

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.
Kuper WFE, Talsma HE, van Schooneveld MJ, Pott JWR, Huijgen BCH, de Wit GC, van Hasselt PM, van Genderen MM
Acta Ophthalmol 2021 Jun;99(4):397-404. Epub 2020 Oct 18 doi: 10.1111/aos.14630. PMID: 33073538Free PMC Article
Choroidal and Sub-Retinal Pigment Epithelium Caverns: Multimodal Imaging and Correspondence with Friedman Lipid Globules.
Dolz-Marco R, Glover JP, Gal-Or O, Litts KM, Messinger JD, Zhang Y, Cozzi M, Pellegrini M, Freund KB, Staurenghi G, Curcio CA
Ophthalmology 2018 Aug;125(8):1287-1301. Epub 2018 Apr 4 doi: 10.1016/j.ophtha.2018.02.036. PMID: 29625839Free PMC Article
7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder.
Castiglia L, Husain RA, Marquardt I, Fink C, Liehr T, Serino D, Elia M, Coci EG
J Intellect Disabil Res 2018 May;62(5):359-370. Epub 2017 Dec 20 doi: 10.1111/jir.12457. PMID: 29266505
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.
Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, Pasquariello R, Santorelli FM
Eur J Neurol 2016 Oct;23(10):1580-7. Epub 2016 Jul 22 doi: 10.1111/ene.13085. PMID: 27444738
Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.
Duncker T, Marsiglia M, Lee W, Zernant J, Tsang SH, Allikmets R, Greenstein VC, Sparrow JR
Invest Ophthalmol Vis Sci 2014 Oct 23;55(12):8134-43. doi: 10.1167/iovs.14-14848. PMID: 25342616Free PMC Article

Diagnosis

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM
Orphanet J Rare Dis 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. PMID: 38459574Free PMC Article
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC
J Med Genet 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. PMID: 37580113
Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.
Ng TK, Cao Y, Yuan XL, Chen S, Xu Y, Chen SL, Zheng Y, Chen H
Eye (Lond) 2022 Apr;36(4):749-759. Epub 2021 Apr 12 doi: 10.1038/s41433-021-01525-x. PMID: 33846575Free PMC Article
Choroidal and Sub-Retinal Pigment Epithelium Caverns: Multimodal Imaging and Correspondence with Friedman Lipid Globules.
Dolz-Marco R, Glover JP, Gal-Or O, Litts KM, Messinger JD, Zhang Y, Cozzi M, Pellegrini M, Freund KB, Staurenghi G, Curcio CA
Ophthalmology 2018 Aug;125(8):1287-1301. Epub 2018 Apr 4 doi: 10.1016/j.ophtha.2018.02.036. PMID: 29625839Free PMC Article
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.
Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, Pasquariello R, Santorelli FM
Eur J Neurol 2016 Oct;23(10):1580-7. Epub 2016 Jul 22 doi: 10.1111/ene.13085. PMID: 27444738

Therapy

Systemic complement activation levels in Stargardt disease.
Dhooge PPA, Runhart EH, Li CHZ, de Kat Angelino CM, Hoyng CB, van der Molen RG, den Hollander AI
PLoS One 2021;16(6):e0253716. Epub 2021 Jun 25 doi: 10.1371/journal.pone.0253716. PMID: 34170959Free PMC Article
Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring.
Levy HL, Lobbregt D, Barnes PD, Poussaint TY
J Pediatr 1996 Jun;128(6):770-5. doi: 10.1016/s0022-3476(96)70328-1. PMID: 8648535

Prognosis

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.
Ng TK, Cao Y, Yuan XL, Chen S, Xu Y, Chen SL, Zheng Y, Chen H
Eye (Lond) 2022 Apr;36(4):749-759. Epub 2021 Apr 12 doi: 10.1038/s41433-021-01525-x. PMID: 33846575Free PMC Article
A 14q distal chromoanagenesis elucidated by whole genome sequencing.
Ader F, Heide S, Marzin P, Afenjar A, Diguet F, Chantot Bastaraud S, Rollat-Farnier PA, Sanlaville D, Portnoï MF, Siffroi JP, Schluth-Bolard C
Eur J Med Genet 2020 Apr;63(4):103776. Epub 2019 Sep 25 doi: 10.1016/j.ejmg.2019.103776. PMID: 31562959
Choroidal and Sub-Retinal Pigment Epithelium Caverns: Multimodal Imaging and Correspondence with Friedman Lipid Globules.
Dolz-Marco R, Glover JP, Gal-Or O, Litts KM, Messinger JD, Zhang Y, Cozzi M, Pellegrini M, Freund KB, Staurenghi G, Curcio CA
Ophthalmology 2018 Aug;125(8):1287-1301. Epub 2018 Apr 4 doi: 10.1016/j.ophtha.2018.02.036. PMID: 29625839Free PMC Article
Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.
Schroeder M, Kjellström U
Mol Vis 2018;24:1-16. Epub 2018 Jan 4 PMID: 29386879Free PMC Article

Clinical prediction guides

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM
Orphanet J Rare Dis 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. PMID: 38459574Free PMC Article
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC
J Med Genet 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. PMID: 37580113
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.
Ng TK, Cao Y, Yuan XL, Chen S, Xu Y, Chen SL, Zheng Y, Chen H
Eye (Lond) 2022 Apr;36(4):749-759. Epub 2021 Apr 12 doi: 10.1038/s41433-021-01525-x. PMID: 33846575Free PMC Article
Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.
Duncker T, Marsiglia M, Lee W, Zernant J, Tsang SH, Allikmets R, Greenstein VC, Sparrow JR
Invest Ophthalmol Vis Sci 2014 Oct 23;55(12):8134-43. doi: 10.1167/iovs.14-14848. PMID: 25342616Free PMC Article

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