oxalates and Retinal-Diseases

The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate. As oxalate cannot be metabolized by humans, oxalate deposits may affect various organs, primarily the kidneys, bones, heart, and eyes. Vision loss induced by severe retinal deposits is commonly seen in infantile PH1; less frequently and milder retinal alterations are found in non-infantile PH1. Retinal disease has not systematically been investigated in patients with PH2 and PH3.. A comprehensive ophthalmic examination was performed in 19 genetically confirmed PH2 (n = 7) and PH3 (n = 12) patients (median age 11 years, range 3-59).. Median best corrected visual acuity was 20/20. In 18 patients, no retinal oxalate deposits were found. A 30-year-old male with PH2 on maintenance hemodialysis with plasma oxalate (Pox) elevation (> 100 µmol/l; normal < 7.4) demonstrated bilateral drusen-like, hyperreflective deposits which were interpreted as crystallized oxalate. Two siblings of consanguineous parents with PH2 presented with retinal degeneration and vision loss; exome-wide analysis identified a second monogenic disease, NR2E3-associated retinal dystrophy.. Retinal disease manifestation in PH2 and PH3 is rare but mild changes can occur at least in PH2-associated kidney failure. Decline in kidney function associated with elevated plasma oxalate levels could increase the risk of systemic oxalosis. Deep phenotyping combined with genomic profiling is vital to differentiate extrarenal disease in multisystem disorders such as PH from independent inherited (retinal) disease. A higher resolution version of the Graphical abstract is available as Supplementary information.

Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Hyperoxaluria, Primary; Male; Middle Aged; Oxalates; Phenotype; Retinal Diseases; Young Adult

Primary hyperoxaluria type 1 (PH1) is a rare disease due to alanine glyoxylate aminotransferase enzyme deficiency caused by mutations in AGXT gene. Increased oxalate causes crystalline deposits in the eye particularly in conjunctiva, cornea, iris, retina, and choroid. A 20-month-old boy was referred with a diagnosis of infantile PH1. There were numerous yellowish crystalline deposits at the posterior pole and hyperpigmented lesions were detected around the macula. Enhanced depth imaging optical coherence tomography (EDI-OCT) revealed dome-shaped retinal pigment epithelium elevations, subretinal and intraretinal hyperreflective material and also choroidal hyperreflective lesions. To the best of our knowledge, this is the first case to document choroidal deposition by EDI-OCT at such an early period of life.

Topics: Choroid; Humans; Infant; Male; Multimodal Imaging; Oxalates; Retina; Retinal Diseases; Retinal Pigment Epithelium; Tomography, Optical Coherence

To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity.. Retrospective, cross-sectional, multicenter study of the OxalEurope Registry Network.. Sixty-eight patients with PH1 were included. Infantile PH1 was diagnosed in 12 patients, and non-infantile PH1 was diagnosed in 56 patients (17 with end-stage renal disease). Ophthalmic examination included best corrected visual acuity (BCVA) testing and multimodal retinal imaging, including fundus photography and optical coherence tomography (OCT). In selected cases, fundus autofluorescence imaging was performed.. All eyes (n = 24) of infantile PH1 patients revealed severe retinal alterations and oxalate deposits, including macular crystals and hyperpigmentations (n = 9, 38%), and subretinal fibrosis (n = 15, 63%) with (n = 7, 47%) or without (n = 8; 53%) associated chronic retinal edema. In 9 eyes (38%, all with subretinal fibrosis), BCVA was significantly reduced (<20/50 Snellen equivalent). In contrast, all eyes (n = 112) of patients with non-infantile PH1 had a BCVA in the normal range (median, 20/20). Only 6 patients with non-infantile disease (11%, all with end-stage renal disease) showed mild, likely PH1-related retinal features. These deposits appeared as focal hyperreflective subretinal lesions on OCT imaging and were hyperautofluorescent on autofluorescence images.. Severe ocular alterations occur in infantile cases, whereas mild or no ocular alterations are typical in non-infantile PH1 patients. The natural history of (sub)retinal oxalate deposits, the pathogenesis of subretinal fibrosis, and exact factors influencing the overall severity of ocular disease manifestation remain to be determined.

Topics: Adolescent; Adult; Child; Child, Preschool; Cross-Sectional Studies; Disease Progression; Female; Fluorescein Angiography; Fundus Oculi; Humans; Hyperoxaluria, Primary; Infant; Infant, Newborn; Male; Middle Aged; Oxalates; Phenotype; Retina; Retinal Diseases; Retrospective Studies; Tomography, Optical Coherence; Visual Acuity; Young Adult

In primary hyperoxaluria type 1 (PH1), systemic oxalate deposition (oxalosis) in end-stage renal disease (ESRD) is associated with high morbidity and mortality, particularly in children with infantile oxalosis (IO). Combined liver and kidney transplantation (CLKT) is the only curative treatment option in these patients. After CLKT, systemic oxalosis decreases continuously, although only insufficient data are available regarding oxalate retinopathy (ROx), leading to severe visual impairment. We analyzed long-term follow-up data of ROx in 13 patients undergoing CLKT for PH1 at our center between 1998 and 2018. Age at transplantation was 1.3-14.2 years, including nine patients with IO. We performed visual acuity testing, slit lamp investigation, funduscopy, fundus photography, and spectral-domain optical coherence tomography (SD-OCT) imaging. Severe (grade 2-4) ROx was present in all nine children with IO but not in the four patients developing ESRD in adolescence. A significant negative correlation was found between age at onset of ESRD and grade of ROx (r = -0.66; P < .001). Notably, follow-up assessment after CLKT demonstrated no regression of ROx after a median of 5.3 years (range 0.6-14). The data show that despite early CLKT in IO, ROx is irreversible and the concomitant visual deterioration occurs prior to transplantation.

Topics: Adolescent; Child; Child, Preschool; Female; Follow-Up Studies; Graft Rejection; Graft Survival; Humans; Hyperoxaluria, Primary; Infant; Liver Transplantation; Male; Oxalates; Postoperative Complications; Prognosis; Retinal Diseases; Retrospective Studies; Risk Factors

Topics: Adolescent; Humans; Hyperoxaluria, Primary; Male; Oxalates; Retina; Retinal Diseases

We present the case of a 2.5-month-old boy with type 1 primary hyperoxaluria and severe systemic oxalosis resulting in massive retinal crystalline deposition. Maculopathy was demonstrated by optical coherence tomography, and nystagmus was present. Electroretinography demonstrated retinal dysfunction, unusual in oxalosis.

Topics: Electroretinography; Humans; Hyperoxaluria; Hyperoxaluria, Primary; Infant; Liver Transplantation; Male; Nystagmus, Pathologic; Oxalates; Papilledema; Pyridoxine; Renal Dialysis; Retinal Diseases; Subretinal Fluid; Tomography, Optical Coherence; Transaminases

We present the case of a young woman who developed renal failure of unknown cause, and after 2 months of maintenance hemodialysis developed livedo reticularis, retinopathy, and peripheral sensory neuropathy. The patient was subsequently shown to have primary oxalosis type I, a rare autosomal recessive error of metabolism characterized by accumulation of calcium oxalate crystals in the kidneys, eyes, skin, and other organs. Intravascular obstruction, caused by deposition of calcium oxalate crystals in cutaneous arterioles, is thought to be responsible for the ischemic livedo reticularis lesions observed in this patient. A method is described for measuring serum glycolate by isotope dilution gas chromatography-mass spectrometry (GC-MS). An approach to the diagnosis and management is also briefly mentioned.

Topics: Adult; Diagnosis, Differential; Female; Glycolates; Humans; Hyperoxaluria; Kidney Failure, Chronic; Oxalates; Peripheral Nerves; Renal Dialysis; Retinal Diseases; Sensation Disorders; Skin Diseases, Vascular

The authors reported ten cases of familial nephropathy (two cystinosis, three Senior and Loken syndrome, one Alport's syndrome and four Oxalosis) associated to ocular manifestations. Aetiologic diagnosis was known from ocular symptoms in five cases (all cases of cystinosis and Senior and Loken syndrome). The authors undertook this study to analyse the value of ocular manifestations in determining the right aetiologic diagnosis in familial nephropathies. The results of this study showed that ocular manifestations are helpful for aetiologic diagnosis in the first diseases. Indeed, corneal injury is synonym of cystinosis and retinitis pigmentosa is usually associated with Senior and Loken syndrome. In Alport's syndrome, ocular manifestations: antcrior lenticonus cataractous and perimacular white points only have orientation value in the diagnosis of this disease. Oxalosis ocular manifestations which consist of retinal oxalate deposits appear late and are concomitant to familial renal insufficiency. They cannot help in the diagnostic search.

Topics: Adolescent; Child; Corneal Diseases; Cystinosis; Eye Diseases; Humans; Kidney Diseases; Nephritis, Hereditary; Oxalates; Renal Insufficiency; Retinal Diseases; Retinitis Pigmentosa

Topics: Adult; Crystallization; Female; Fundus Oculi; Humans; Ichthyosiform Erythroderma, Congenital; Macula Lutea; Oxalates; Retinal Diseases; Visual Acuity

A female infant had progressive atypical pigmentary retinopathy with type 1 hereditary oxalosis. At the age of 3 months she had a flecked retina type of retinopathy and six months later she exhibited a unique type of atypical pigmentary retinopathy. This latter abnormality was characterized by a dense parafoveal hyperpigmented ring five disc diameters in size, and composed of a confluence of small rings of hyperpigmented retinal pigment epithelium surrounding whitish highly refractile calcium oxalate crystalline deposits.

Topics: Female; Humans; Infant; Metabolism, Inborn Errors; Oxalates; Retinal Diseases

The clinical and pathological findings of a 6-month-old infant with primary oxalosis, who died in renal failure, are presented. The oxalate crystalline deposition in the retinal pigment epithelium corresponded to the flecked retinopathy observed ophthalmoscopically. The difficulties in establishing a precise biochemical diagnosis are discussed and the relevant ophthalmic literature is reviewed.

Topics: Calcium Oxalate; Carbohydrate Metabolism, Inborn Errors; Crystallization; Humans; Infant; Male; Oxalates; Pigment Epithelium of Eye; Retinal Diseases

Topics: Aged; Atrophy; Cicatrix; Electroretinography; Fluorescein Angiography; Fundus Oculi; Humans; Hyalin; Light Coagulation; Macular Degeneration; Middle Aged; Oxalates; Pigment Epithelium of Eye; Retinal Detachment; Retinal Diseases; Retinal Hemorrhage; Retinal Vessels; Retinitis; Vascular Diseases; Vitamin A Deficiency

A child with hyperoxaluria, probable Type I, was noted to have a "flecked retina" on funduscopic examination at age 2 1/2 months; it persisted throughout his seven years of life. The relationship of the ocular findings to his metabolic disease is discussed.

Topics: Calcium; Child, Preschool; Cytomegalovirus Infections; Fundus Oculi; Glycolates; Humans; Infant; Male; Oxalates; Pigment Epithelium of Eye; Retinal Diseases

A presentation is given of the severe changes in the retina of a 26-year-old man caused by intraocular Calciumoxalate crystals with clinical, histological and polarizing optical findings. The stadia of the retinopathia oxalogenica are classified here.

Topics: Adult; Crystallization; Eye Manifestations; Histocytochemistry; Humans; Kidney Failure, Chronic; Male; Oxalates; Retina; Retinal Diseases

Calcium oxalate crystals were demonstrated in the retinal pigment epithelium (RPE) of a 66-year old white man with changes in the fundus oculi consistent with the flecked retina ayndrome. The patient had a history of rheumatoid arthritis, mild hypertension, and mild renal insufficiency presumed due to his hypertension. He underwent prolonged abdominal surgery under methoxyflurane anesthesia, following which he developed acute irreversible renal failure. Calcium oxalate crystals were demonstrated postoperatively in a kidney biopsy specimen. He subsequently was maintained on renal dialysis with decreasing renal function. Several weeks before his death fundus examination revealed a picture suggestive of a flecked retina syndrome. At autopsy, widespread oxalosis was found including crystals in the RPE and in some areas in the neural retina and cillary epithelium.

Topics: Acute Kidney Injury; Aged; Anesthesia; Autopsy; Biopsy; Calcium; Crystallization; Epithelium; Fundus Oculi; Humans; Kidney; Kidney Failure, Chronic; Male; Metabolic Diseases; Methoxyflurane; Oxalates; Retina; Retinal Diseases; Retinal Pigments; Syndrome

Topics: Adult; Ascorbic Acid; Corneal Injuries; Epithelium; Foreign-Body Reaction; Glyoxylates; Humans; Hydrogen-Ion Concentration; Male; Melanins; Metabolic Diseases; Oxalates; Retinal Detachment; Retinal Diseases; Uveitis; X-Ray Diffraction

Topics: Acute Kidney Injury; Aged; Autopsy; Calcium; Crystallins; Crystallography; Epithelium; Fundus Oculi; Humans; Kidney; Male; Metabolic Diseases; Methoxyflurane; Microscopy, Electron; Oxalates; Retina; Retinal Diseases; Retinal Pigments; X-Ray Diffraction

Topics: Adult; Ascorbic Acid; Blindness; Diabetes Complications; Female; Hemosiderosis; Humans; Male; Middle Aged; Oxalates; Retina; Retinal Detachment; Retinal Diseases

Topics: Acute Kidney Injury; Anesthesia, General; Biopsy; Calcium; Humans; Kidney; Male; Metabolic Diseases; Methoxyflurane; Microscopy, Electron; Middle Aged; Oxalates; Pentobarbital; Phenobarbital; Retina; Retinal Diseases; Time Factors