Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia

Abdulaziz Al-Hadlaq; Abdulaziz Al-Oreany; Sahar Elkhamary; Patrik Schatz

doi:10.24911/IJMDC.51-1619534990

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Original Article
Online Published: 19 Jan 2022

IJMDC. 2022; 6(3): 422-427

doi: 10.24911/IJMDC.51-1619534990

Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia

Abdulaziz Al-hadlaq, Abdulaziz Al-oreany, Sahar Elkhamary, Patrik Schatz.

Abstract
Background and Objective: Retinal hemangioblastoma (RHB) is the main ocular lesion in von Hippel-Lindau (VHL) syndrome. The objective of this study was to review the outcomes of management of RHBs in a tertiary ophthalmic center in Central Saudi Arabia.
Methods: This is a retrospective case series of patients diagnosed and managed with ocular manifestations of VHL or RHB between 2000 and 2013. The management outcomes at least 1 year after presentation were evaluated. Systemic manifestations of VHL were also studied.
Results: We identified 16 eyes of 13 patients with RHBs. Systemic involvement was noted in nine of the patients. These included VHL, based on associated systemic findings (6), possible VHL based on positive family history (4) and isolated unilateral RHB in 1 eye (4). All eyes had epi-retinal membrane. Retinal detachment (serous, tractional, or rhegmatogenous) was noted in 13 eyes. RHBs were located in the periphery in 13 (81.5%) of eyes and 3 had juxtapapillary lesions. One VHL patient was found to carry the c.256C > T (p.Pro86Ser) heterozygous mutation in the VHL gene. Eight eyes were operated with pars plana vitrectomy, epiretinal membrane peeling and retinal detachment repair. The median duration of follow up was 14 years (inter-quartile range 11-24 years). Two eyes had no perception of light while 10 (62.5%) eyes had severe visual impairment at the last follow up.
Conclusions: Not all RHBs are part of VHL. Epi-retinal membrane and retinal detachment are common findings in eyes with RHB. The management of complications of RHB is a challenge with limited visual gain.

Key words: Von Hippel Lindau, VHL, retinal hemangioblastoma, epiretinal membrane, pars plana vitrectomy

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Pubmed Style

Al-hadlaq A, Al-oreany A, Elkhamary S, Schatz P. Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia. IJMDC. 2022; 6(3): 422-427. doi:10.24911/IJMDC.51-1619534990

Web Style

Al-hadlaq A, Al-oreany A, Elkhamary S, Schatz P. Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia. https://www.ijmdc.com/?mno=77061 [Access: October 12, 2025]. doi:10.24911/IJMDC.51-1619534990

AMA (American Medical Association) Style

Al-hadlaq A, Al-oreany A, Elkhamary S, Schatz P. Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia. IJMDC. 2022; 6(3): 422-427. doi:10.24911/IJMDC.51-1619534990

Vancouver/ICMJE Style

Al-hadlaq A, Al-oreany A, Elkhamary S, Schatz P. Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia. IJMDC. (2022), [cited October 12, 2025]; 6(3): 422-427. doi:10.24911/IJMDC.51-1619534990

Harvard Style

Al-hadlaq, A., Al-oreany, . A., Elkhamary, . S. & Schatz, . P. (2022) Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia. IJMDC, 6 (3), 422-427. doi:10.24911/IJMDC.51-1619534990

Turabian Style

Al-hadlaq, Abdulaziz, Abdulaziz Al-oreany, Sahar Elkhamary, and Patrik Schatz. 2022. Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia. International Journal of Medicine in Developing Countries, 6 (3), 422-427. doi:10.24911/IJMDC.51-1619534990

Chicago Style

Al-hadlaq, Abdulaziz, Abdulaziz Al-oreany, Sahar Elkhamary, and Patrik Schatz. "Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia." International Journal of Medicine in Developing Countries 6 (2022), 422-427. doi:10.24911/IJMDC.51-1619534990

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

Al-hadlaq, A., Al-oreany, . A., Elkhamary, . S. & Schatz, . P. (2022) Pheno and genotype presentations and ocular treatment outcomes of von Hipple Lindau disease in Saudi Arabia. International Journal of Medicine in Developing Countries, 6 (3), 422-427. doi:10.24911/IJMDC.51-1619534990

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