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Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1
Moustafa S Magliyah1, Sulaiman M Alsulaiman2, Sawsan R Nowilaty2
1Ophthalmology Department, Prince Mohammed Medical City, AlJouf, Saudi Arabia.
Insights
Mutations in the LRPAP1 gene cause a high risk of childhood-onset rhegmatogenous retinal detachment (RRD) in high myopia, often leading to blindness. Early detection and prophylactic laser treatment are crucial for affected children.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Autosomal recessive high myopia is a significant risk factor for retinal complications.
- Rhegmatogenous retinal detachment (RRD) in childhood can lead to severe vision loss.
- LRPAP1 gene mutations have been linked to various ocular conditions.
Purpose of the Study:
- To describe a novel form of childhood-onset RRD associated with autosomal recessive high myopia.
- To investigate the role of LRPAP1 gene mutations in this specific RRD phenotype.
Main Methods:
- Retrospective cohort study of 12 children (24 eyes) with LRPAP1 mutations and high myopia.
- Serial ophthalmological examinations and retinal imaging over a mean follow-up of 4.6 years.
- Analysis of retinal interventions including prophylactic laser and surgical repair.
Main Results:
- 42% of children developed RRD at a mean age of 10.4 years.
- Eyes with RRD showed significantly reduced visual acuity compared to unaffected eyes.
- 100% of operated eyes experienced redetachment due to proliferative vitreoretinopathy (PVR), with 75% achieving reattachment after further intervention.
Conclusions:
- This study identifies a new, nonsyndromic RRD linked to recessive LRPAP1 mutations in high myopia.
- LRPAP1 mutations significantly increase the risk of childhood-onset RRD and PVR, potentially causing blindness.
- Early childhood screening, close follow-up, and prophylactic laser are recommended for LRPAP1-related high myopia.
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.
