Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2

Elizabeth A. Grant, Karmen M. Trzupek, Jacob Reiss, Kate Crow, Ludwine Messiaen, Richard Weleber

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Purpose: To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE). Methods: Retrospective observational case reports. Results: Two unrelated children presented to ophthalmology with isolated combined hamartomas of the retina and RPE. Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots, was diagnosed with neurofibromatosis type 1 (NF1). By the age of 5, he had developed bilateral vestibular schwannomas, and was diagnosed with NF2. Subsequent molecular testing revealed a truncating mutation in exon 13 (c.1396C > T; p.R466X) of the NF2 gene. Patient two presented to ophthalmology at the age of 7 months; by age 6 she had developed two subcutaneous masses on her forehead, a mass in her left lower abdomen, and in her gumline. Despite lack of pathological evidence of neurofibroma upon biopsy, molecular testing was initiated at age 6 and revealed a truncating mutation in exon 8 (c.734delA) of the NF2 gene in the blood. Conclusions: Bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE) in a young child should alert the clinician to the possibility of neurofibromatosis type 2. The recognition of this rare finding as a presenting feature of NF2 can lead to earlier diagnosis, which is vital to appropriate surveillance and possible surgical intervention.

Original languageEnglish (US)
Pages (from-to)133-138
Number of pages6
JournalOphthalmic Genetics
Volume29
Issue number3
DOIs
StatePublished - Sep 2008

Fingerprint

Neurofibromatosis 2
Hamartoma
Retinal Pigment Epithelium
Neurofibromatosis 2 Genes
Ophthalmology
Retina
Exons
Plexiform Neurofibroma
Cafe-au-Lait Spots
Neurofibroma
Mutation
Neurofibromatosis 1
Forehead
Acoustic Neuroma
Abdomen
Early Diagnosis
Biopsy

Keywords

  • Genotype
  • Hamartoma
  • Neurilemmoma
  • Neurofibromatoses
  • Neurofibromatosis 2
  • Phenotype
  • Retina
  • Schwannoma

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. / Grant, Elizabeth A.; Trzupek, Karmen M.; Reiss, Jacob; Crow, Kate; Messiaen, Ludwine; Weleber, Richard.

In: Ophthalmic Genetics, Vol. 29, No. 3, 09.2008, p. 133-138.

Research output: Contribution to journalArticle

Grant, Elizabeth A. ; Trzupek, Karmen M. ; Reiss, Jacob ; Crow, Kate ; Messiaen, Ludwine ; Weleber, Richard. / Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. In: Ophthalmic Genetics. 2008 ; Vol. 29, No. 3. pp. 133-138.
@article{6ff463759e534b1cb7e2b1e6ed887d38,
title = "Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2",
abstract = "Purpose: To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE). Methods: Retrospective observational case reports. Results: Two unrelated children presented to ophthalmology with isolated combined hamartomas of the retina and RPE. Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots, was diagnosed with neurofibromatosis type 1 (NF1). By the age of 5, he had developed bilateral vestibular schwannomas, and was diagnosed with NF2. Subsequent molecular testing revealed a truncating mutation in exon 13 (c.1396C > T; p.R466X) of the NF2 gene. Patient two presented to ophthalmology at the age of 7 months; by age 6 she had developed two subcutaneous masses on her forehead, a mass in her left lower abdomen, and in her gumline. Despite lack of pathological evidence of neurofibroma upon biopsy, molecular testing was initiated at age 6 and revealed a truncating mutation in exon 8 (c.734delA) of the NF2 gene in the blood. Conclusions: Bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE) in a young child should alert the clinician to the possibility of neurofibromatosis type 2. The recognition of this rare finding as a presenting feature of NF2 can lead to earlier diagnosis, which is vital to appropriate surveillance and possible surgical intervention.",
keywords = "Genotype, Hamartoma, Neurilemmoma, Neurofibromatoses, Neurofibromatosis 2, Phenotype, Retina, Schwannoma",
author = "Grant, {Elizabeth A.} and Trzupek, {Karmen M.} and Jacob Reiss and Kate Crow and Ludwine Messiaen and Richard Weleber",
year = "2008",
month = "9",
doi = "10.1080/13816810802206507",
language = "English (US)",
volume = "29",
pages = "133--138",
journal = "Ophthalmic Paediatrics and Genetics",
issn = "0167-6784",
publisher = "Aeolus Press",
number = "3",

}

TY - JOUR

T1 - Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2

AU - Grant, Elizabeth A.

AU - Trzupek, Karmen M.

AU - Reiss, Jacob

AU - Crow, Kate

AU - Messiaen, Ludwine

AU - Weleber, Richard

PY - 2008/9

Y1 - 2008/9

N2 - Purpose: To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE). Methods: Retrospective observational case reports. Results: Two unrelated children presented to ophthalmology with isolated combined hamartomas of the retina and RPE. Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots, was diagnosed with neurofibromatosis type 1 (NF1). By the age of 5, he had developed bilateral vestibular schwannomas, and was diagnosed with NF2. Subsequent molecular testing revealed a truncating mutation in exon 13 (c.1396C > T; p.R466X) of the NF2 gene. Patient two presented to ophthalmology at the age of 7 months; by age 6 she had developed two subcutaneous masses on her forehead, a mass in her left lower abdomen, and in her gumline. Despite lack of pathological evidence of neurofibroma upon biopsy, molecular testing was initiated at age 6 and revealed a truncating mutation in exon 8 (c.734delA) of the NF2 gene in the blood. Conclusions: Bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE) in a young child should alert the clinician to the possibility of neurofibromatosis type 2. The recognition of this rare finding as a presenting feature of NF2 can lead to earlier diagnosis, which is vital to appropriate surveillance and possible surgical intervention.

AB - Purpose: To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE). Methods: Retrospective observational case reports. Results: Two unrelated children presented to ophthalmology with isolated combined hamartomas of the retina and RPE. Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots, was diagnosed with neurofibromatosis type 1 (NF1). By the age of 5, he had developed bilateral vestibular schwannomas, and was diagnosed with NF2. Subsequent molecular testing revealed a truncating mutation in exon 13 (c.1396C > T; p.R466X) of the NF2 gene. Patient two presented to ophthalmology at the age of 7 months; by age 6 she had developed two subcutaneous masses on her forehead, a mass in her left lower abdomen, and in her gumline. Despite lack of pathological evidence of neurofibroma upon biopsy, molecular testing was initiated at age 6 and revealed a truncating mutation in exon 8 (c.734delA) of the NF2 gene in the blood. Conclusions: Bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE) in a young child should alert the clinician to the possibility of neurofibromatosis type 2. The recognition of this rare finding as a presenting feature of NF2 can lead to earlier diagnosis, which is vital to appropriate surveillance and possible surgical intervention.

KW - Genotype

KW - Hamartoma

KW - Neurilemmoma

KW - Neurofibromatoses

KW - Neurofibromatosis 2

KW - Phenotype

KW - Retina

KW - Schwannoma

UR - http://www.scopus.com/inward/record.url?scp=51049114021&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=51049114021&partnerID=8YFLogxK

U2 - 10.1080/13816810802206507

DO - 10.1080/13816810802206507

M3 - Article

VL - 29

SP - 133

EP - 138

JO - Ophthalmic Paediatrics and Genetics

JF - Ophthalmic Paediatrics and Genetics

SN - 0167-6784

IS - 3

ER -