Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency

ObjectiveTo expand the genetic spectrum of hereditary spastic paraparesis by a treatable condition and to evaluate the therapeutic effects of biotin supplementation in an adult patient with biotinidase deficiency (BD).MethodsWe performed exome sequencing (ES) in a patient with the clinical diagnosis of complex hereditary spastic paraparesis. The patient was examined neurologically, including functional rating scales. We performed ophthalmologic examinations and metabolic testing.ResultsA 41-year-old patient presented with slowly progressive lower limb spasticity combined with optic atrophy. He was clinically diagnosed with complex hereditary spastic paraparesis. The initial panel diagnostics did not reveal the disease-causing variant; therefore, ES was performed. ES revealed biallelic pathogenic variants in the BTD gene leading to the genetic diagnosis of BD. BD is an autosomal recessive metabolic disorder causing a broad spectrum of neurologic symptoms, optic atrophy, and dermatologic abnormalities. When treatment is initiated in time, symptoms can be prevented or reversed by biotin supplementation. After diagnosis in our patient, biotin supplementation was started. One year after the onset of therapy, symptoms remained stable with slight improvement of sensory deficits.ConclusionsThese findings expand the genetic spectrum of the clinical diagnosis of complex hereditary spastic paraparesis by a treatable disease. Today, most children with BD should have been identified via newborn screening to start biotin supplementation before the onset of symptoms. However, adult patients and those born in countries without newborn screening programs for BD are at risk of being missed. Therapeutic success depends on early diagnosis and presymptomatic treatment.

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Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder

Journal of American Association for Pediatric Ophthalmology and Strabismus ◽

10.1016/j.jaapos.2021.04.003 ◽

2021 ◽

Author(s):

Arif O. Khan

Keyword(s):

Optic Atrophy ◽

Metabolic Disorder ◽

Biotinidase Deficiency

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Hereditary Optic Neuropathy

Neuro-Ophthalmology ◽

10.1093/med/9780195390841.003.0005 ◽

2011 ◽

pp. 25-28

Author(s):

Matthew J. Thurtell ◽

Robert L. Tomsak ◽

Robert B. Daroff

Keyword(s):

Optic Neuropathy ◽

Optic Atrophy ◽

Vision Loss ◽

Treatment Options ◽

Monocular Vision ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Central Vision Loss ◽

Promising Treatment ◽

Hereditary Optic Neuropathy

Monocular and binocular vision loss can occasionally be caused by hereditary optic neuropathy. While progressive painless binocular central vision loss is characteristic of dominant optic atrophy, acute painless monocular vision loss is characteristic of Leber’s hereditary optic neuropathy. We discuss the clinical features and evaluation of Leber’s hereditary optic neuropathy and briefly mention promising treatment options.

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Refractory Giant Cell Arteritis Complicated by Vision Loss From Optic Atrophy and Maculopathy Associated With Pachymeningitis

Journal of Neuro-Ophthalmology ◽

10.1097/wno.0000000000000566 ◽

2018 ◽

Vol 38 (1) ◽

pp. 17-23 ◽

Cited By ~ 2

Author(s):

Jorge A. Uribe ◽

Ishita Aggarwal ◽

Juthamat Witthayaweerasak ◽

Y. Joyce Liao ◽

Gerald J. Berry ◽

...

Keyword(s):

Giant Cell Arteritis ◽

Giant Cell ◽

Optic Atrophy ◽

Vision Loss

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Sudden Vision Loss in a Diabetic Patient with Lipemia Retinalis and Optic Atrophy

POINT OF VIEW EAST – WEST ◽

10.25276/2410-1257-2020-4-17-19 ◽

2020 ◽

pp. 17-19

Author(s):

Omer Kiristioglu Mehmet ◽

◽

Ucan Gunduz Gamze ◽

Yalcinbayir Ozgur ◽

Gelisken Oner ◽

...

Keyword(s):

Diabetic Patient ◽

Optic Atrophy ◽

Vision Loss

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NF1 optic pathway glioma: analyzing risk factors for visual outcome and indications to treat

Neuro-Oncology ◽

10.1093/neuonc/noaa153 ◽

2020 ◽

Author(s):

Amedeo A Azizi ◽

David A Walker ◽

Jo-Fen Liu ◽

Astrid Sehested ◽

Timothy Jaspan ◽

...

Keyword(s):

Risk Factors ◽

Optic Atrophy ◽

Vision Loss ◽

Multivariable Analysis ◽

Visual Outcome ◽

Optic Pathway Glioma ◽

Optic Pathway ◽

Visual Outcomes ◽

Treatment Indications ◽

Tumor Involvement

Abstract Background The aim of the project was to identify risk factors associated with visual progression and treatment indications in pediatric patients with neurofibromatosis type 1 associated optic pathway glioma (NF1-OPG). Methods A multidisciplinary expert group consisting of ophthalmologists, pediatric neuro-oncologists, neurofibromatosis specialists, and neuro-radiologists involved in therapy trials assembled a cohort of children with NF1-OPG from 6 European countries with complete clinical, imaging, and visual outcome datasets. Using methods developed during a consensus workshop, visual and imaging data were reviewed by the expert team and analyzed to identify associations between factors at diagnosis with visual and imaging outcomes. Results Eighty-three patients (37 males, 46 females, mean age 5.1 ± 2.6 y; 1–13.1 y) registered in the European treatment trial SIOP LGG-2004 (recruited 2004–2012) were included. They were either observed or treated (at diagnosis/after follow-up). In multivariable analysis, factors present at diagnosis associated with adverse visual outcomes included: multiple visual signs and symptoms (adjusted odds ratio [adjOR]: 8.33; 95% CI: 1.9–36.45), abnormal visual behavior (adjOR: 4.15; 95% CI: 1.20–14.34), new onset of visual symptoms (adjOR: 4.04; 95% CI: 1.26–12.95), and optic atrophy (adjOR: 3.73; 95% CI: 1.13–12.53). Squint, posterior visual pathway tumor involvement, and bilateral pathway tumor involvement showed borderline significance. Treatment appeared to reduce tumor size but improved vision in only 10/45 treated patients. Children with visual deterioration after primary observation are more likely to improve with treatment than children treated at diagnosis. Conclusions The analysis identified the importance of symptomatology, optic atrophy, and history of vision loss as predictive factors for poor visual outcomes in children with NF1-OPG.

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