A unique case of microspherophakia in adult Refsum disease

Sep 28, 2026

Adult Refsum disease (RD) is a rare autosomal recessive peroxisomal disorder with ocular findings driven by phytanic acid accumulation, including retinitis pigmentosa, attenuated retinal vessels, bone-spicule pigmentation, optic disc pallor, and later macular involvement. No prior association between RD and microspherophakia had been documented. A 29-year-old female with genetically confirmed adult RD presented with concurrent microspherophakia, highlighting an unexpected combined lens and retinal phenotype.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages3

Reading Time8 min

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Introduction

Case presentation

American Journal of Ophthalmology Case Reports 41 (2026) 102495 Contents lists available at ScienceDirect American Journal of Ophthalmology Case Reports journal [homepage:](homepage: www.ajocasereports.com/)[ www.ajocasereports.com/](homepage: www.ajocasereports.com/) | A unique case of microspherophakia in adult Refsum disease Catherine Liu b,* , Sydney Galindez a , Emily Laurent a , David Hinkle a
a Tulane University Department of Ophthalmology, 1430 Tulane Avenue, New Orleans, LA, 70112, USA
b University of South Florida Morsani College of Medicine, 12901 Bruce B. Downs Blvd, Tampa, FL, 33612, USA | | | | --- | --- | --- | | A R T I C L E I N F O | | A B S T R A C T | | Keywords:
Refsum disease Microspherophakia Retinitis pigmentosa
Peroxisomal disorder | | Adult Refsum disease (RD) is a rare autosomal recessive peroxisomal disorder with an estimated prevalence of fewer than 1 in 1 million. The ocular manifestations result from the accumulation of phytanic acid, leading toretinitis pigmentosa, attenuated retinal vessels, bone spicule pigmentation, optic disc pallor, and macular involvement in advanced stages. To date, there has been no documented association between RD and microspherophakia, a rare lens abnormality more commonly linked to Weill-Marchesani syndrome. Microspherophakia is characterized by a small lens diameter, increased anteroposterior thickness, and a visible lens equator upon full mydriasis. We present a unique case of concurrent RD and microspherophakia. | 1. Introduction Adult Refsum disease (RD) is a rare autosomal recessive peroxisomal disorder with an estimated prevalence of fewer than 1 in 1 million. It is caused by impaired alpha-oxidation of phytanic acid, leading to its systemic accumulation and resulting in multi-organ involvement. Systemic features may include polyneuropathy, cerebellar ataxia, sensorineural hearing loss, anosmia, ichthyosis, and cardiac arrhythmias. RD typically presents in late childhood or adolescence and is associated with a reduced life expectancy, averaging 40–50 years. Ocular manifestations are universal in RD, most notably retinitis pigmentosa, characterized by night blindness and progressive peripheral vision loss. Additional findings include attenuated retinal vessels, bonespicule pigmentation, optic disc pallor, and macular involvement in later stages. Microspherophakia is a rare lenticular anomaly most commonly associated with Weill-Marchesani syndrome. It is characterized by a small lens diameter, increased anteroposterior thickness, and a visible lens equator upon full mydriasis. After conducting a literature review on August 2025 utilizing PubMed and Google Scholar using the key words Refsum disease, microspherophakia we did not find any prior reports of microspherophakia occurring in the context of adult Refsum disease. We present the rare case of a 29-year-old female with adult Refsum disease who presents with concurrent microspherophakia. 2. Case presentation We present the case of a 29-year-old nonverbal female with genetically confirmed Refsum disease, developmental delay, and retinitis pigmentosa who was referred for evaluation of worsening vision. Her caregivers noted a marked decrease in visual responsiveness over the past year. She had previously been seen for cystoid macular edema (CME) which was treated with acetazolamide but had been lost to ophthalmic follow-up. Her Refsum disease is currently being managed with a restrictive diet with complete dairy elimination. At the initial visit, the CME appeared hazy on OCT (due to dense cataract) but appeared to be resolved. On exam at subsequent visit, she was poorly cooperative with vision testing. Visual acuity, visual fields and extraocular movements could not be reliably assessed. Anterior segment exam revealed a white, hypermature cataract with capsular wrinkling and iridodonesis in the right eye (Fig. 1), and a 2+ posterior subcapsular cataract (PSC) in the left. Bot

FAQs

What characterizes adult Refsum disease and its ocular manifestations?

Adult Refsum disease is a rare autosomal recessive peroxisomal disorder caused by impaired alpha-oxidation of phytanic acid, leading to systemic and ocular involvement. Ocular findings commonly include retinitis pigmentosa, attenuated retinal vessels, bone-spicule pigmentation, optic disc pallor, and later macular involvement.

Why is microspherophakia considered uncommon in adult Refsum disease?

Microspherophakia is a rare lens abnormality usually linked to Weill-Marchesani syndrome. The article reports that prior literature review found no earlier reports of microspherophakia occurring with adult Refsum disease.

How was the case evaluated and treated when visual testing was limited?

Visual acuity and fields could not be reliably assessed due to poor cooperation and media opacity from dense cataracts. B-scan ultrasound confirmed a flat retina, and zonular weakness with lens findings supported proceeding with cataract surgery; vitrectomy with lensectomy was performed without IOL implantation due to uncertain visual potential.

Sep 28, 2026

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