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. 2020 Sep;30(5):966-973.
doi: 10.1177/1120672120920544. Epub 2020 Apr 27.

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management

Xiaowan Ma  1 , Ke Ning  2 , Sayena Jabbehdari  3 , Philipp P Prosseda  2 , Yang Hu  2 , Ann Shue  2 , Scott R Lambert  2 , Yang Sun  2   4
Affiliations

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management

Xiaowan Ma et al. Eur J Ophthalmol. 2020 Sep.

Abstract

Background: Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe (OCRL) gene are found in Lowe syndrome patients. Although loss of vision is a major concern for families and physicians who take care of Lowe syndrome children, definitive cause of visual loss is still unclear. Children usually present with bilateral dense cataracts at birth and glaucoma, which occurs in more than half of cases, either concurrently or following cataract surgery.

Materials and methods: A retrospective review was conducted on the prevalence and characteristics of ocular findings among families of patients with Lowe syndrome with 137 uniquely affected individuals.

Results: Of 137 patients, all had bilateral congenital cataracts. Nystagmus was reported in 69.3% of cases, glaucoma in 54.7%, strabismus in 35.0%, and corneal scar in 18.2% of patients. Glaucoma was reported as the most common cause of blindness (46%) followed by corneal scars (41%). Glaucoma occurred in 54.7% of patients and affected both eyes in the majority of cases. Of these patients, 55% underwent surgery for glaucoma, while the remaining patients used medications to control their eye pressure. Timolol and latanoprost were the most commonly used medications. Although trabeculectomy and goniotomy are commonly used for pressure management, aqueous tube shunts had the best outcomes.

Conclusion: Ocular manifestations in individuals with Lowe syndrome and carriers with OCRL mutation are reported which may help familiarize clinicians with the ocular manifestations and management of a rare and complex syndrome.

Keywords: Fanconi syndrome; Lowe syndrome; OCRL gene; congenital cataract; congenital glaucoma.

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Conflict of interest statement

Declaration of conflicting interests

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Corrected visual acuity (i.e. glasses, contacts) of 196 eyes with Lowe syndrome.
Figure 2.
Figure 2.
The main causes for 63 patients diagnosed with blindness. “Blindness” means central visual acuity of 20/200 or less in the better eye with the use of a correcting lens. An eye that is accompanied by a limitation in the fields of vision so that the widest diameter of the visual field subtends an angle no greater than 20° which is considered as having a central visual acuity of 20/200 or less. Blindness in some patients is caused by multiple factors, so the percentage sum is not 100%.
Figure 3.
Figure 3.
Cataract in a 3-month-old boy with Lowe syndrome presented with bilateral decrease in red reflex.
See this image and copyright information in PMC

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