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Bilateral simultaneous disc edema and cataract associated with albright hereditary osteodystrophy.

ABSTRACT: A 16-year-old female presented with poor vision in both eyes. On clinical examination, she had bilateral cataracts and optic disc edema bilaterally on ultrasound examination. Extensive intracranial calcification was evident on computerized tomography. Physical examination revealed short stature, rounded chubby face, dental abnormalities, brachydactyly, and obesity. Laboratory evidence of hypocalcemia, hyperphosphatemia, elevated parathyroid hormone level (indicative of pseudohypoparathyroidism) along with the constellation of phenotypical characteristics lead to a diagnosis of Albright's hereditary osteodystrophy. This case is being presented to increase awareness regarding presence of coexisting and previously undiagnosed hypocalcemic syndromes in pediatric cataracts. The role of an ophthalmologist may be pivotal in diagnosing such an entity as documented in the present case.

SUBMITTER: Sengupta S

PROVIDER: S-EPMC3277018 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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Bilateral simultaneous disc edema and cataract associated with albright hereditary osteodystrophy.

Sengupta Sabyasachi S Ravindran Ravilla D RD Kannusamy Veena V Tamrakar Varsha V

Middle East African journal of ophthalmology 20120101 1

A 16-year-old female presented with poor vision in both eyes. On clinical examination, she had bilateral cataracts and optic disc edema bilaterally on ultrasound examination. Extensive intracranial calcification was evident on computerized tomography. Physical examination revealed short stature, rounded chubby face, dental abnormalities, brachydactyly, and obesity. Laboratory evidence of hypocalcemia, hyperphosphatemia, elevated parathyroid hormone level (indicative of pseudohypoparathyroidism) ...[more]

PMID: 22346135

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Project description:Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivation of GNAS, a complex locus that encodes the alpha-stimulatory subunit of heterotrimeric G proteins (Gsα) in addition to NESP55 and XLαs due to alternative first exons. AHO skeletal manifestations include brachydactyly, brachymetacarpia, compromised adult stature, and subcutaneous ossifications. AHO patients with maternally-inherited GNAS mutations develop pseudohypoparathyroidism type 1A (PHP1A) with resistance to multiple hormones that mediate their actions through G protein-coupled receptors (GPCRs) requiring Gsα (eg, parathyroid hormone [PTH], thyroid-stimulating hormone [TSH], growth hormone-releasing hormone [GHRH], calcitonin) and severe obesity. Paternally-inherited GNAS mutations cause pseudopseudohypoparathyroidism (PPHP), in which patients have AHO skeletal features but do not develop hormonal resistance or marked obesity. These differences between PHP1A and PPHP are caused by tissue-specific reduction of paternal Gsα expression. Previous reports in mice have shown loss of Gsα causes osteopenia due to impaired osteoblast number and function and suggest that AHO patients could display evidence of reduced bone mineral density (BMD). However, we previously demonstrated PHP1A patients display normal-increased BMD measurements without any correlation to body mass index or serum PTH. Due to these observed differences between PHP1A and PPHP, we utilized our laboratory's AHO mouse model to address whether Gsα heterozygous inactivation differentially affects bone remodeling based on the parental inheritance of the mutation. We identified fundamental distinctions in bone remodeling between mice with paternally-inherited (GnasE1+/-p) versus maternally-inherited (GnasE1+/-m) mutations, and these findings were observed predominantly in female mice. Specifically, GnasE1+/-p mice exhibited reduced bone parameters due to impaired bone formation and enhanced bone resorption. GnasE1+/-m mice, however, displayed enhanced bone parameters due to both increased osteoblast activity and normal bone resorption. These in vivo distinctions in bone remodeling between GnasE1+/-p and GnasE1+/-m mice could potentially be related to changes in the bone microenvironment driven by calcitonin-resistance within GnasE1+/-m osteoclasts. Further studies are warranted to assess how Gsα influences osteoblast-osteoclast coupling. © 2021 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

Project description:BackgroundCohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the VPS13B/COH1 gene. It is characterized by variable clinical symptoms such as deformity of the head, face, hands and feet, eye abnormalities, abdominal obesity, neutropenia and nonprogressive intellectual disability. The typical lesions in the eyeball in Cohen syndrome include high myopia, retinal dystrophy, strabismus, maculopathy and lens subluxation. The present study describes the coexistence of bilateral macular edema with pale optic disc in a patient with a homozygous deletion in the VPS13B/COH1 gene.Material and methodsA 6-year-old Caucasian girl with facial dysmorphism, microcephaly, prominent upper incisors, narrow hands with slender fingers, congenital heart defect and ophthalmic symptoms was subjected to genetic testing. The genetic evaluation revealed a homozygous deletion on the long arm of chromosome 8 encompassing 20-25 exons of the VPS13 gene, as confirmed by Cohen syndrome. She underwent a full ophthalmological examination with the assessment of slit lamp examination of anterior segment and fundoscopy, refraction error, biometry, central corneal thickness and additionally electroretinography, optical coherence tomography and fundus photography.ResultsIn the ophthalmologic examination, the girl had bilateral astigmatism accompanied by myopia and a marked reduction in central corneal thickness. Fundus examination showed pale optic nerve discs and "salt and pepper" retinopathy. Bilateral cystic macular edema was revealed in handheld optical coherence tomography. Electroretinography showed a reduced response amplitude of cones and rods.ConclusionIn a patient with high myopia, macular edema, pale optic disc and facial dysmorphism, Cohen syndrome should be considered in the differential diagnosis. The severity of individual clinical features in patients with Cohen syndrome varies. It can be assumed that the type of mutation affects the occurrence and severity of individual symptoms.

Project description:In this article, we report a case of bilateral severe reversible corneal edema caused by amantadine therapy.A 39-year-old women was referred to us for evaluation of bilateral corneal edema. Her past medical history was significant for multiple sclerosis, anorexia, and seizures. She developed painless progressive bilateral loss of vision for the past 6 months. She was evaluated by several ophthalmologists elsewhere who felt that the patient's visual loss was secondary to a nutritional deficiency as opposed to related to multiple sclerosis. She was started on vitamin B-12 medication without improvement in her symptoms. She was then evaluated by neuro-ophthalmology. The examination revealed severe bilateral corneal edema and was referred to our corneal service for further evaluation of her corneal condition. Our examination revealed best corrected visual acuity of 20/400 bilaterally. Corneal thickness was 940 microm in the right eye and 802 microm in the left. Color vision was intact. Conjunctivas were white bilaterally. Cornea evaluation revealed diffuse stromal edema and Descemet's folds and microcystic subepithelial edema with to guttae noted. Anterior chambers were deep and quiet. A specular microscopy revealed significant pleomorphism and polymegathism with an endothelial cell count of 1,504 cells in the right eye and 1,596 in the left eye.Review of the patient's medical information revealed therapy with amantadine 2 months prior to the appearance of the patient's symptoms as a means to control the patient's tremors. The patient experienced rapid resolution of the corneal edema within the next 2 months after discontinuation of the agent with recovery of best corrected visual acuity of 20/40 in the right eye and 20/30 in the left.In cases of unexplained corneal edema and in the absence of any identifiable ocular cause, a review of toxic effects of systemic medications should be performed. Early diagnosis may prevent irreversible endothelial damage. Amantadine can cause endothelial failure and needs to be considered as part of the differential diagnosis of corneal edema.

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Bilateral simultaneous disc edema and cataract associated with albright hereditary osteodystrophy.

Publications

Bilateral simultaneous disc edema and cataract associated with albright hereditary osteodystrophy.

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