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Purpose <p>To report a case of α-mannosidosis with intellectual, hearing impairment and progressive retinal degeneration, supported by ten years of ophthalmic follow-up, genetic testing, and leukocyte α-mannosidase enzymatic analysis.</p> Methods <p>The patient underwent serial ophthalmic examinations over a ten-year period, including best-corrected visual acuity (BCVA) testing, fundus photography, optical coherence tomography (OCT), and fundus autofluorescence (FAF), to monitor disease progression. Trio-based whole-exome sequencing (WES) was performed on the family. Variant confirmation was conducted via Sanger sequencing. To support the genetic findings, leukocyte α-mannosidase activity was measured using fresh peripheral blood samples.</p> Results <p>At first presentation, BCVA was 20/50 OD and 20/40 OS. Over the next decade, vision progressively declined to 20/200 in both eyes. Fundus images showed granular pigment mottling in the posterior pole, and subsequent wide-angle imaging detected bone-spicule pigmentation deposits in peripheral retina. OCT demonstrated progressive retinal thinning, with loss of the ellipsoid zone. FAF revealed expanding areas of retinal atrophy. The patient has presented with bilateral sensorineural hearing loss, delayed speech development, persistent dysarthria, mild cognitive impairment, and coarse facial features since childhood. Genetic analysis identified a novel homozygous <i>MAN2B1</i> mutation: c.1316_1327delinsTGATG (p.Ala439Valfs*36), inherited from consanguineous parents with the same heterozygous genotypes. The variant was classified as pathogenic based on ACMG criteria. The patient's leukocyte α-mannosidase activity was profoundly decreased, confirming the diagnosis.</p> Conclusions <p>This case highlights the progressive nature of retinal degeneration in α-mannosidosis and underscores the diagnostic value of leukocyte enzyme testing alongside genetic and ophthalmic assessments. Early recognition of ophthalmic signs, particularly in patients with syndromic features such as hearing loss and facial dysmorphism, is essential for timely diagnosis and intervention.</p>

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Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up

  • 期刊论文

  • 发表日期：

    2026年1月13日

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  • Fengxia Yao,
  • Yamei Li,
  • Xing Wei,
  • Weimin Zhang,
  • Yunyu Zhou,
  • Yue Liu,
  • Xuan Zou,
  • Ruifang Sui

摘要

Purpose

To report a case of α-mannosidosis with intellectual, hearing impairment and progressive retinal degeneration, supported by ten years of ophthalmic follow-up, genetic testing, and leukocyte α-mannosidase enzymatic analysis.

Methods

The patient underwent serial ophthalmic examinations over a ten-year period, including best-corrected visual acuity (BCVA) testing, fundus photography, optical coherence tomography (OCT), and fundus autofluorescence (FAF), to monitor disease progression. Trio-based whole-exome sequencing (WES) was performed on the family. Variant confirmation was conducted via Sanger sequencing. To support the genetic findings, leukocyte α-mannosidase activity was measured using fresh peripheral blood samples.

Results

At first presentation, BCVA was 20/50 OD and 20/40 OS. Over the next decade, vision progressively declined to 20/200 in both eyes. Fundus images showed granular pigment mottling in the posterior pole, and subsequent wide-angle imaging detected bone-spicule pigmentation deposits in peripheral retina. OCT demonstrated progressive retinal thinning, with loss of the ellipsoid zone. FAF revealed expanding areas of retinal atrophy. The patient has presented with bilateral sensorineural hearing loss, delayed speech development, persistent dysarthria, mild cognitive impairment, and coarse facial features since childhood. Genetic analysis identified a novel homozygous MAN2B1 mutation: c.1316_1327delinsTGATG (p.Ala439Valfs*36), inherited from consanguineous parents with the same heterozygous genotypes. The variant was classified as pathogenic based on ACMG criteria. The patient's leukocyte α-mannosidase activity was profoundly decreased, confirming the diagnosis.

Conclusions

This case highlights the progressive nature of retinal degeneration in α-mannosidosis and underscores the diagnostic value of leukocyte enzyme testing alongside genetic and ophthalmic assessments. Early recognition of ophthalmic signs, particularly in patients with syndromic features such as hearing loss and facial dysmorphism, is essential for timely diagnosis and intervention.