Ocular Features of Treatable Lysosomal Storage Disorders – Fabry Disease, Mucopolysaccharidoses I, II and VI and Gaucher Disease

Lanzl, Ines; Leroy, Bart P.

doi:10.17925/eor.2009.02.01.55

Cited by 3 publications

(2 citation statements)

References 33 publications

(40 reference statements)

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“…In the most severe cases, this retinal degeneration ultimately results in widespread retinal atrophy encompassing the entire fundus. Interestingly, none of the eyes in our cohort exhibited any anterior segment abnormalities, regardless of the severity of the retinal degeneration, the advancing age of the patient or the extent of neurological deterioration, which is in contrast to other lysosomal storage diseases that can manifest with anterior segment findings such as corneal opacities [26,27]. …”

Section: Discussionmentioning

confidence: 72%

Spectrum of Ocular Manifestations in CLN2-Associated Batten (Jansky-Bielschowsky) Disease Correlate with Advancing Age and Deteriorating Neurological Function

et al. 2013

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BackgroundLate infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten’s disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. The spectrum of ophthalmic manifestations of LINCL and the relationship with neurological function has not been previously described.MethodsPatients underwent ophthalmic evaluations, including anterior segment and dilated exams, optical coherence tomography, fluorescein and indocyanine green angiography. Patients were also assessed with the LINCL Neurological Severity Scale. Ophthalmic findings were categorized into one of five severity scores, and the association of the extent of ocular disease with neurological function was assessed.ResultsFifty eyes of 25 patients were included. The mean age at the time of exam was 4.9 years (range 2.5 to 8.1). The mean ophthalmic severity score was 2.6 (range 1 to 5). The mean neurological severity score was 6.1 (range 2 to 11). Significantly more severe ophthalmic manifestations were observed among older patients (p<0.005) and patients with more severe neurological findings (p<0.03). A direct correlation was found between the Ophthalmic Severity Scale and the Weill Cornell Neurological Scale (p<0.002). A direct association was also found between age and the ophthalmic manifestations (p<0.0002), with older children having more severe ophthalmic manifestations.ConclusionsOphthalmic manifestations of LINCL correlate closely with the degree of neurological function and the age of the patient. The newly established LINCL Ophthalmic Scale may serve as an objective marker of LINCL severity and disease progression, and may be valuable in the evaluation of novel therapeutic strategies for LINCL, including gene therapy.

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Section: Discussionmentioning

confidence: 72%

Spectrum of Ocular Manifestations in CLN2-Associated Batten (Jansky-Bielschowsky) Disease Correlate with Advancing Age and Deteriorating Neurological Function

et al. 2013

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“…However, despite inter‐patient variation, the presence and severity of corneal involvement in the disease presentation depends on the MPS subtype, basically meaning the particular lysosomal enzyme that is affected 2,5,9 . In general, although progressive corneal clouding is rare in patients with MPS II and MPS III, 6,10 it is a prominent feature of patients with MPS I (≥80%) 9,11 and MPS VI (≥94%) 9,12 . It has also been observed in MPS VII 13…”

Section: Corneal Cloudingmentioning

confidence: 99%

Application of (lamellar) keratoplasty and limbal stem cell transplantation for corneal clouding in the mucopolysaccharidoses – a review

Pinello

Busin

Fontana³

et al. 2010

Clinical Exper Ophthalmology

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Corneal clouding or opacification is a prominent feature of mucopolysaccharidosis (MPS), particularly in MPS I and VI. In patients with marked corneal clouding and visual impairment, penetrating keratoplasty may be considered to improve the patient's vision, functional capacity and quality of life. In MPS, glycosaminoglycans mainly accumulate in the corneal stroma and not in Descemet's membrane or the endothelium, therefore deep anterior lamellar keratoplasty (DALK) may be preferred in these patients over penetrating keratoplasty. Although there are only limited data on the use of DALK in MPS (I and VI) patients, the results are generally favourable. Nonetheless, when deciding on whether to perform keratoplasty in patients with MPS, the risk of general anaesthesia due to potential concomitant cardio-pulmonary problems and cervical spine instability, the potential presence of other ocular manifestations that also impair vision (e.g. glaucoma, retinal degeneration and optic atrophy) and/or complications such as allograft rejection and the risk of re-opacification of the graft, all need to be taken into consideration. Limbal stem cell transplantation, which can be combined with keratoplasty, also holds potential promise in the treatment of these complex cases. A review of the indications, local and systemic risks, techniques of lamellar andpenetrating keratoplasty, and the potential of limbal stem cell transplantation is provided in the context of corneal opacity in MPS

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Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease

et al. 2021

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Diagnosis of rare disorders requires heightened clinical acumen. When such disorders present with atypical or novel features, it adds to the diagnostic challenge. A 9-month-old female infant who had received a diagnosis of neonatal hepatitis due to cytomegalovirus infection at 2 months of age presented to our institute with developmental delay, fever, vomiting, feeding difficulty, breathlessness and features of elevated intracranial pressure due to hydrocephalus. Key examination findings with cholestatic jaundice as an early manifestation led to suspicion of type 4 Farber disease. Observation of hydrocephalus, hypertension, bilateral pinguecula and Erlenmeyer flask deformity of the femur were unusual findings for Farber disease. The child had few features (pinguecula, Erlenmeyer flask deformity and hydrocephalus) overlapping with Gaucher disease. Alternatively, prosaposin deficiency (Farber disease type 7) was another differential diagnosis. Diagnosis of Farber disease was confirmed by detection of foamy macrophages on skin biopsy and two homozygous missense variants in ASAH1 gene.

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Ocular Features of Treatable Lysosomal Storage Disorders – Fabry Disease, Mucopolysaccharidoses I, II and VI and Gaucher Disease

Cited by 3 publications

References 33 publications

Spectrum of Ocular Manifestations in CLN2-Associated Batten (Jansky-Bielschowsky) Disease Correlate with Advancing Age and Deteriorating Neurological Function

Spectrum of Ocular Manifestations in CLN2-Associated Batten (Jansky-Bielschowsky) Disease Correlate with Advancing Age and Deteriorating Neurological Function

Application of (lamellar) keratoplasty and limbal stem cell transplantation for corneal clouding in the mucopolysaccharidoses – a review

Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease

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