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Updated: Jan 20, 2026
A Mouse Model for Laser-induced Choroidal Neovascularization
Published on: December 27, 2015
CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
Riccardo Sacconi1, Francesco Bandello, Giuseppe Querques
1Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy .
Insights
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency can cause severe vision loss. This case report details choroidal neovascularization as a complication, accelerating vision impairment in a patient with LCHAD deficiency.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare genetic disorder affecting fatty acid metabolism.
- Ocular manifestations are known long-term complications of LCHAD deficiency, impacting patient quality of life.
Observation:
- A 21-year-old female with LCHAD deficiency (1528 G>C mutation) presented with progressive bilateral visual decline.
- Multimodal imaging revealed macular and midperipheral chorioretinal atrophy in both eyes.
- The left eye showed complicating choroidal neovascularization (CNV).
Findings:
- This is the first reported case of choroidal neovascularization associated with LCHAD deficiency.
- The CNV in the left eye correlated with severe vision impairment (20/1,000).
Implications:
- Choroidal neovascularization may be an under-recognized complication of LCHAD deficiency.
- Early detection and management of CNV could potentially mitigate accelerated vision loss in LCHAD patients.
Purpose:
To report the first case describing choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Methods:
Case report including multimodal imaging discussion.
Results:
A 21-year-old woman affected by LCHAD deficiency (confirmed by 1528 G>C homozygous mutation) was referred to our department for progressive visual decline in both eyes. Best-corrected visual acuities were 20/40 and 20/1,000 in the right and left eye, respectively. Ultra-widefield imaging, fluorescein angiography, structural optical coherence tomography, and optical coherence tomography angiography revealed the presence of macular and midperipheral chorioretinal atrophy complicated by a choroidal neovascularization in the left eye.
Conclusion:
Ocular changes in LCHAD deficiency are long-term complications and severely affect the quality of life of patients. We report for the first time the evidence that choroidal neovascularization could complicate ocular changes accelerating the progressive vision impairment.
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