A unique case of microspherophakia in adult Refsum disease.

Catherine Liu, Sydney Galindez, Emily Laurent, David Hinkle

Abstract readCase Reports

In one paragraph

Article in American journal of ophthalmology case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Catherine LiuUniversity of South Florida Morsani College of Medicine, 12901 Bruce B. Downs Blvd, Tampa, FL, 33612, USA.

Sydney GalindezTulane University Department of Ophthalmology, 1430 Tulane Avenue, New Orleans, LA, 70112, USA.

Emily LaurentTulane University Department of Ophthalmology, 1430 Tulane Avenue, New Orleans, LA, 70112, USA.

David HinkleTulane University Department of Ophthalmology, 1430 Tulane Avenue, New Orleans, LA, 70112, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 to retinitis 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.

Indexed as

MicrospherophakiaPeroxisomal disorderRefsum diseaseRetinitis pigmentosa

Identifiers

PMID41487288

DOI10.1016/j.ajoc.2025.102495

PMCPMC12756563

What Socratic holds

Textmetadata

LicenceCC BY-NC-ND

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.