Eye involvement in inherited metabolic disorders

Davison, James

doi:10.1177/2515841420979109

Cited by 8 publications

(4 citation statements)

References 112 publications

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“…The rings can be visualized in a non-invasive ophthalmological examination using a slit lamp [ 35 ]. Kayser–Fleischer rings are considered to be relevant criteria for confirmation of Wilson’s disease [ 36 ]. Furthermore, their disappearance can be observed as a result of favorable therapy.…”

Section: Clinical Presentation Of Wilson’s Diseasementioning

confidence: 99%

Wilson’s Disease: An Update on the Diagnostic Workup and Management

Kasztelan-Szczerbińska

Cichoż‐Lach

2021

JCM

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Wilson’s disease (WD) is a rare autosomal recessive disorder of hepatocellular copper deposition. The diagnostic approach to patients with WD may be challenging and is based on a complex set of clinical findings that derive from patient history, physical examination, as well as laboratory and imaging testing. No single examination can unequivocally confirm or exclude the disease. Timely identification of signs and symptoms using novel biomarkers and modern diagnostic tools may help to reduce treatment delays and improve patient prognosis. The proper way of approaching WD management includes, firstly, early diagnosis and prompt treatment introduction; secondly, careful and lifelong monitoring of patient compliance and strict adherence to the treatment; and, last but not least, screening for adverse effects and evaluation of treatment efficacy. Liver transplantation is performed in about 5% of WD patients who present with acute liver failure at first disease presentation or with signs of decompensation in the course of liver cirrhosis. Increasing awareness of this rare inherited disease among health professionals, emphasizing their training to consider early signs and symptoms of the illness, and strict monitoring are vital strategies for the patient safety and efficacy of WD therapy.

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Section: Clinical Presentation Of Wilson’s Diseasementioning

confidence: 99%

Wilson’s Disease: An Update on the Diagnostic Workup and Management

Kasztelan-Szczerbińska

Cichoż‐Lach

2021

JCM

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“…Disorders of eye structure and function are a hallmark of numerous inherited metabolic diseases, including neuronal ceroid lipofuscinoses (NCLs). While in many metabolic diseases these ophtalmic involvement include: 1) eye movement disorders (oculogyric crisis, ophthalmoplegia, ptosis); 2) corneal pathology (keratopathy, corneal clouding/opacification); 3) lens pathology (ectopia lentis, cataract); 4) glaucoma; and 5) retina (retinitis pigmentosa, cherry red spot, optic atrophy), in NCLs they present mainly as retinitis pigmentosa and progressive optic atrophy, leading to visual loss (Davison 2020 ).…”

Section: Discussionmentioning

confidence: 99%

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

et al. 2022

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Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive visual loss, epilepsy of unknown etiology and dementia. Presence of lipofuscin deposits with typical pattern of ‘fingerprints’ and vacuolized lymphocytes suggest the diagnosis of CLN3. Cause of CLN3 are mutations in the CLN3 gene, among which the most frequently found is the large deletion 1.02 kb spreading on exons 7 and 8. We present 4 patients from 2 families, in whom the deterioration of visual quality and acuity was observed as first clinical sign, when they were a few years old and it was successively accompanied by symptoms of neurologic deterioration (like generalized convulsions with consciousness impairment). In all patients the 1.02 kb deletion in the CLN3 gene was detected in homo- or heterozygosity with other CLN3 pathogenic variant. Ultrastructural studies revealed abnormal structures corresponding to ‘fingerprint’ profiles (FPPs) in conjunctival endothelial cells. It should be emphasized that in patients with blindness of unknown cause the diagnosis of ceroid lipofuscinosis should be considered and in older children—especially CLN3. The facility of the analysis for the presence of 1.02 kb deletion and economic costs are a solid argument for intensive use of this test in the diagnostic procedure of CLN3.

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“…The eye is affected by many conditions, such as diabetes mellitus (DM), hypertension, rheumatic diseases and metabolic disorders in the pediatric age group (7)(8)(9)(10). Eye involvement may also occur in cases such as headache, infection and trauma (11).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of pediatric ophthalmic consultations in a tertiary care university hospital

Uzel

ÇAY>

Uzel

2023

Anatolian Current Medical Journal

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Aim: To characterize the patient groups referred to the ophthalmology clinic from the pediatrics clinic and to determine the frequency of the findings. Material and Method: The patients consulted to Balıkesir University Eye Clinic by the Pediatrics Clinic were evaluated retrospectively. Patients were divided into rule-out and ocular symptom groups. Reasons for consultation and ocular findings were recorded. Results: The mean age of 116 patients included in the study was 8.04±4.11 years. Of the patients included in the study, 75 (64.7%) rule-out 41 (35.3%) were in the ocular symptom group. 41 (54.7%) patients in the rule-out group were those who applied for headaches and requested an examination of the fundus and optic disc. Papilledema was detected in 7 (17.1%) patients with headache. Of the patients in the ocular symptom group, 11 (26.8%) were consulted for ocular trauma, 11 (26.8%) for red eye, and 7 (17.1%) for preseptal/orbital cellulitis. Preseptal cellulitis was detected in 4 (57.1%) patients consulted for preseptal/orbital cellulitis. Ocular findings were detected in 10 (91%) patients consulted for trauma. Conjunctivitis was detected in 9 (81.8%) patients who were consulted with red eyes. Conclusion: In the pediatric age group, ophthalmic consultation is mainly performed due to rule-out. The most common reason is the examination of the fundus of the eye due to headache. It is crucial for pediatric age groups to consult an ophthalmologist by performing an eye and vision examination by a pediatrician in terms of early diagnosis and treatment.

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Eye involvement in inherited metabolic disorders

Cited by 8 publications

References 112 publications

Wilson’s Disease: An Update on the Diagnostic Workup and Management

Wilson’s Disease: An Update on the Diagnostic Workup and Management

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

Evaluation of pediatric ophthalmic consultations in a tertiary care university hospital

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