Ophthalmological Finding in the Patient with Lowe Syndrome

Tomčíková, Dana; Gerinec, A; Bzdúch, Vladimír; Krásnik, Vladimír; Bušányová, Beáta; Brennerova, Katarina

doi:10.31348/2018/1/4-3-2018

Cited by 2 publications

(8 citation statements)

References 4 publications

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“…In LS, female carriers have been found to have lenticular opacities that range from punctate to focal subscapular cataracts. 8,9 The lenticular abnormalities consist of cortical dots of various shapes and size, ranging from microns to several millimeters, which increase in number with progressive age of the carriers. Our study showed that lens opacities are present in most obligate carriers of LS.…”

Section: Discussionmentioning

confidence: 99%

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management

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Jabbehdari

et al. 2020

European Journal of Ophthalmology

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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.

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Section: Discussionmentioning

confidence: 99%

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management

Ning

Jabbehdari

et al. 2020

European Journal of Ophthalmology

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“…Patients with Löwe syndrome also have a distinctive pattern of behavioral anomalies. Over 80% show stubbornness, aggression, irritability, temper tantrums, and complex repetitive movements like hand flapping [1].…”

Section: Discussionmentioning

confidence: 99%

“…Löwe syndrome (oculocerebrorenal syndrome, ORPHA:534, OMIM#309000) is a very rare hereditary disorder characterized by X-linked inheritance [1]. Congenital cataracts, mild to severe intellectual disability, and renal tubular malfunction that results in slowly progressing renal failure are its three distinctive features [2].…”

Section: Introductionmentioning

confidence: 99%

“…Pale complexion, growth retardation, intellectual disability, areflexia, hypotonia, convulsions, and non-inflammatory joint swelling are common symptoms. Most of these symptoms are due to the generalized dysfunction of the proximal tubule of the kidney, which results in excessive excretion of water, bicarbonates, glucose, and amino acids [1]. Pathogenic variants in the OCRL gene on chromosome Xq25-26 cause this disorder.…”

Section: Introductionmentioning

confidence: 99%

“…Both are inherited in an X-linked recessive manner, but Dent disease type 1 is caused by a mutation in the CLCN5 gene [5]. Some Dent-2 patients have minor extrarenal symptoms of the syndrome, indicating that this condition is a milder variant of Löwe syndrome [1].…”

Section: Introductionmentioning

confidence: 99%

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Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome

et al. 2023

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Objectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies. Case presentation: We present the first Bulgarian genetically confirmed patient with OCRL. The patient had facial dysmorphism, cryptorchidism, congenital cataracts, nystagmus, delayed physical and mental development, and poor nutritional status. He had severe rickets, metabolic acidosis, hypokalaemia, hypophosphataemia, and low IGF-1 levels at the age of three, in addition to his developmental delay. The molecular-genetic analysis reported a pathogenic variant c.1124A>G, p.H375R in the OCRL gene. This variant was inherited from the mother, who was a carrier. Following the diagnosis of OCRL, treatment with potassium citrate, phosphate, and calcitriol was initiated, along with an increase in caloric intake. Following general physical and biochemical improvement, therapy with rhGH started 4 years ago, and current results are presented. Conclusion: The patient with Löwe syndrome who was presented with a 6-year follow-up demonstrates the complexity of rare disease cases and the value of multidisciplinary care together with growth hormone treatment for better results in these patients.

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Ophthalmological Finding in the Patient with Lowe Syndrome

Cited by 2 publications

References 4 publications

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management

Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome

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