Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1
Magliyah, Moustafa S. ; Alsulaiman, Sulaiman M. ; Nowilaty, Sawsan R. ; Alkuraya, Fowzan S. and Schatz, Patrik LU
(2020)
Annual Meeting of the American Academy of Ophthalmology
In Ophthalmology Retina
4(1).
p.77-83
- Abstract
Purpose: To describe a new form of childhood-onset rhegmatogenous retinal detachment (RRD) in autosomal recessive high myopia associated with mutations in LRPAP1. Design: Retrospective cohort study. Participants: A total of 12 children (24 eyes) with recessive LRPAP1 mutations and associated high myopia. Methods: Serial ophthalmological examination and retinal imaging during 4.6±1.9 (mean ± standard deviation) years. Retinal interventions included prophylactic laser and surgical retinal repair. Main Outcome Measures: Incidence and recurrence rate of RRD and retinal break formation. Association between LRPAP1 genotypes and RRD characteristics. Results: Some 42% of children (5 children [6 eyes]) developed RRD at the age of 10.43±0.97... (More)
Purpose: To describe a new form of childhood-onset rhegmatogenous retinal detachment (RRD) in autosomal recessive high myopia associated with mutations in LRPAP1. Design: Retrospective cohort study. Participants: A total of 12 children (24 eyes) with recessive LRPAP1 mutations and associated high myopia. Methods: Serial ophthalmological examination and retinal imaging during 4.6±1.9 (mean ± standard deviation) years. Retinal interventions included prophylactic laser and surgical retinal repair. Main Outcome Measures: Incidence and recurrence rate of RRD and retinal break formation. Association between LRPAP1 genotypes and RRD characteristics. Results: Some 42% of children (5 children [6 eyes]) developed RRD at the age of 10.43±0.97 years. Four of the children who developed RRD were male (80%), and 1 was female (20%). Visual acuity was significantly reduced in eyes with RRD at presentation and at the most recent visit compared with eyes with no RRD (P < 0.001 for both). Two eyes had inoperable RRD. Four eyes for which primary retinal repair was done had redetachment (100% of operated eyes) due to variable degrees of proliferative vitreoretinopathy (PVR). Reattachment after surgical repair, which was maintained at least during 6 months of follow-up, was achieved in 3 eyes (75%), with final visual acuities of 20/300 in 2 eyes and 20/400 in 1 eye. Conclusions: This is the first description of a nonsyndromic, high myopia-related, recessive RRD without any signs of vitreoretinal degeneration. Recessive LRPAP1 gene mutations confer a high risk of childhood-onset RRD and PVR. Proliferative vitreoretinopathy in turn increases the risk of recurrent RRD and may lead to blindness. Recognizing the LRPAP1-related high myopia phenotype is important, and early childhood examination with additional close follow-up and prophylactic retinal laser should be considered.
(Less)
- author
- Magliyah, Moustafa S.
; Alsulaiman, Sulaiman M.
; Nowilaty, Sawsan R.
; Alkuraya, Fowzan S.
and Schatz, Patrik
LU
- organization
- publishing date
- 2020
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Ophthalmology Retina
- volume
- 4
- issue
- 1
- pages
- 77 - 83
- publisher
- Elsevier
- conference name
- Annual Meeting of the American Academy of Ophthalmology
- conference location
- San Francisco, United States
- conference dates
- 2019-10-12 - 2019-10-15
- external identifiers
-
- pmid:31607522
- scopus:85073057872
- DOI
- 10.1016/j.oret.2019.08.005
- language
- English
- LU publication?
- yes
- id
- 7fab0a2f-9f53-4731-90ef-96873281ca2c
- date added to LUP
- 2019-10-25 12:49:15
- date last changed
- 2024-03-04 06:29:56
@misc{7fab0a2f-9f53-4731-90ef-96873281ca2c,
abstract = {{<p>Purpose: To describe a new form of childhood-onset rhegmatogenous retinal detachment (RRD) in autosomal recessive high myopia associated with mutations in LRPAP1. Design: Retrospective cohort study. Participants: A total of 12 children (24 eyes) with recessive LRPAP1 mutations and associated high myopia. Methods: Serial ophthalmological examination and retinal imaging during 4.6±1.9 (mean ± standard deviation) years. Retinal interventions included prophylactic laser and surgical retinal repair. Main Outcome Measures: Incidence and recurrence rate of RRD and retinal break formation. Association between LRPAP1 genotypes and RRD characteristics. Results: Some 42% of children (5 children [6 eyes]) developed RRD at the age of 10.43±0.97 years. Four of the children who developed RRD were male (80%), and 1 was female (20%). Visual acuity was significantly reduced in eyes with RRD at presentation and at the most recent visit compared with eyes with no RRD (P < 0.001 for both). Two eyes had inoperable RRD. Four eyes for which primary retinal repair was done had redetachment (100% of operated eyes) due to variable degrees of proliferative vitreoretinopathy (PVR). Reattachment after surgical repair, which was maintained at least during 6 months of follow-up, was achieved in 3 eyes (75%), with final visual acuities of 20/300 in 2 eyes and 20/400 in 1 eye. Conclusions: This is the first description of a nonsyndromic, high myopia-related, recessive RRD without any signs of vitreoretinal degeneration. Recessive LRPAP1 gene mutations confer a high risk of childhood-onset RRD and PVR. Proliferative vitreoretinopathy in turn increases the risk of recurrent RRD and may lead to blindness. Recognizing the LRPAP1-related high myopia phenotype is important, and early childhood examination with additional close follow-up and prophylactic retinal laser should be considered.</p>}},
author = {{Magliyah, Moustafa S. and Alsulaiman, Sulaiman M. and Nowilaty, Sawsan R. and Alkuraya, Fowzan S. and Schatz, Patrik}},
language = {{eng}},
note = {{Conference Abstract}},
number = {{1}},
pages = {{77--83}},
publisher = {{Elsevier}},
series = {{Ophthalmology Retina}},
title = {{Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1}},
url = {{http://dx.doi.org/10.1016/j.oret.2019.08.005}},
doi = {{10.1016/j.oret.2019.08.005}},
volume = {{4}},
year = {{2020}},
}