Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management

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.

Primary Cilia in Amacrine Cells in Retinal Development

“…[7][8][9][10] Defects of cilia in humans can result in a group of conditions called ciliopathies, that present in the brain, kidneys, and eyes. [11][12][13][14][15] During eye development, cilia exhibit dynamic behavior during early retinal differentiation and play roles in proliferation and survival of retinal progenitors. 16,17 In humans, disruption of key ciliary genes can result in anophthalmia or microphthalmia.…”

An Update on the Oculocerebrorenal Syndrome of Lowe: A Review Article

“…Dense congenital bilateral cataracts are regarded as a significant sign of LS, which occur in embryonic time due to defects in formation and late eradication of the primary posterior lens fibers. These cataracts might also be shown on prenatal ultrasound images (1,2). In case of delay in treatment, cataracts can cause nystagmus, amblyopia, and eventually blindness (2,5).…”

“…The patients might also show corneal leukoma; nevertheless, all male children have visual impairments. Visual impairment is a mix of morphological conversion in the eye, retinal impairment, and cortical function (1,2,8). Corrected accuracy is rarely better than 20/100 (2).…”

“…The life duration of LS is not exceeded more than 40 years, and prenatal diagnosis and prevention of complications are essential. The LS was first described in 1952 by Lowe et al The LS's other name is known as a phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency or oculocerebrorenal (OCRL) syndrome (1)(2)(3). The OCRL syndrome's name roots in the fact that the three main parts of the body are prominently preoccupied (i.e., eyes, brain, and kidney).…”

“…Still, it is likely that musculoskeletal, gonad, skin, and connective tissues are also involved (4)(5)(6). This syndrome is a sex-linked disorder, the main features of which are the triad of renal tubular dysfunction, mental disability, and cataracts (1)(2)(3)(4)(5)(6). Other characteristics include growth retardation after birth with no dependence on kidney function, behavioral problems, stereotypic behavior, areflexia, severe muscular hypotonia, intellectual disability, recurrent pathologic bone fracture, nontender joint swelling, tenosynovitis, arthritis, debilitating palmar and plantar fibrosis, focal nodules, bone erosions, potassium loss, sodium loss, aminoaciduria, bicarbonaturia, low-molecular-weight (LMW) proteinuria, tubular dysfunction with slowly progressive renal insufficiency, and arthropathy (1,2,(7)(8)(9).…”