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Page 1
Recurrent retinal detachment in Stickler Syndrome.
Chen TH, Fooladi MI, Alabek M, Scanga HL, Tripi KS, Nischal KK, Martel JN. Chen TH, et al. Among authors: scanga hl. Eye (Lond). 2025 Jan;39(1):170-174. doi: 10.1038/s41433-024-03402-9. Epub 2024 Oct 18. Eye (Lond). 2025. PMID: 39424914
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME. Gillingham MB, et al. Among authors: scanga hl. J Inherit Metab Dis. 2024 Jul;47(4):746-756. doi: 10.1002/jimd.12738. Epub 2024 Apr 16. J Inherit Metab Dis. 2024. PMID: 38623632
A proposal for an updated staging system for LCHADD retinopathy.
Wongchaisuwat N, Gillingham MB, Yang P, Everett L, Gregor A, Harding CO, Sahel JA, Nischal KK, Scanga HL, Black D, Vockley J, Arnold G, Pennesi ME. Wongchaisuwat N, et al. Among authors: scanga hl. Ophthalmic Genet. 2024 Apr;45(2):140-146. doi: 10.1080/13816810.2024.2303682. Epub 2024 Jan 30. Ophthalmic Genet. 2024. PMID: 38288966 Free PMC article.
Congenital Corneal Opacity in 22q11.2 Deletion Syndrome: A Case Series.
Franco E, Iqbal N, Shah PR, Alabek M, Tripi KS, Prescott C, Scanga HL, Chu CT, Nischal KK. Franco E, et al. Among authors: scanga hl. Cornea. 2023 Mar 1;42(3):344-350. doi: 10.1097/ICO.0000000000003155. Epub 2022 Nov 30. Cornea. 2023. PMID: 36455075
Congenital corneal staphyloma in 8q21.11 microdeletion syndrome.
Franco E, Scanga HL, Jacob S, Chu CT, Nischal KK. Franco E, et al. Among authors: scanga hl. Ophthalmic Genet. 2023 Apr;44(2):147-151. doi: 10.1080/13816810.2022.2127152. Epub 2022 Nov 7. Ophthalmic Genet. 2023. PMID: 36341706
26 results