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Figure 1.
Normal Baseline Fundus Photograph and Fluorescein Angiography
Normal Baseline Fundus Photograph and Fluorescein Angiography

Widefield color fundus photograph (A) and fluorescein angiography (B) demonstrate a normal posterior pole and nasal midperipheral retina in a 6-month-old girl. Findings on an examination 2 months later were also normal.

Figure 2.
Acquired Combined Hamartoma of the Retina and Retinal Pigment Epithelium
Acquired Combined Hamartoma of the Retina and Retinal Pigment Epithelium

A, Three months subsequently, a minimally raised, charcoal gray lesion with preretinal gliosis appeared in the previously normal retina. B, Fluorescein angiography shows that the retinal pigment epithelium, retina, and preretinal tissues were involved, with retinal vasculature contracting toward the lesion.

1.
Gass  JD.  An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma. Trans Am Ophthalmol Soc. 1973;71:171-185.
PubMed
2.
Schachat  AP, Shields  JA, Fine  SL,  et al.  Combined hamartomas of the retina and retinal pigment epithelium. Ophthalmology. 1984;91(12):1609-1615.
PubMedArticle
3.
Shields  CL, Thangappan  A, Hartzell  K, Valente  P, Pirondini  C, Shields  JA.  Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients visual outcome based on macular versus extramacular tumor location. Ophthalmology. 2008;115(12):2246-2252.e3.
PubMedArticle
4.
Hrisomalos  NF, Mansour  AM, Jampol  LM, Fowell  SM, Greenwald  MJ.  "Pseudo”-combined hamartoma following papilledema: case report. Arch Ophthalmol. 1987;105(12):1634-1635.
PubMedArticle
5.
Ticho  BH, Egel  RT, Jampol  LM.  Acquired combined hamartoma of the retina and pigment epithelium following parainfectious meningoencephalitis with optic neuritis. J Pediatr Ophthalmol Strabismus. 1998;35(2):116-118.
PubMed
6.
Singh  AD, Agarwal  A. Tumors of the retinal pigment epithelium. In: Agarwal  A, ed. Gass’ Atlas of Macular Diseases. 5th ed. New York, NY: Saunders; 2012:1090-1091.
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Research Letter
September 2015

Acquired Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Author Affiliations
  • 1Associated Retinal Consultants, William Beaumont Hospital, Royal Oak, Michigan
JAMA Ophthalmol. 2015;133(9):1085-1086. doi:10.1001/jamaophthalmol.2015.1675

The etiology of combined hamartoma of the retina and retinal pigment epithelium remains speculative, although the consensus has been that it is a congenital lesion present at birth, as inferred from the relatively early presentations of reported cases.13 We describe a patient with a combined hamartoma that developed from a focus of apparently normal retina, with concurrent serial fundus photographs.

Report of a Case

A 6-month-old girl with an unremarkable medical and family history was referred for examination under anesthesia for a total tractional and exudative retinal detachment of the right eye. Findings on clinical examination of the left eye were unremarkable (Figure 1A). Widefield fluorescein angiography showed disorganized vascular branching in the right eye, with full vascularization in the left eye and normal posterior pole and midperipheral vasculature (Figure 1B). There were a total of 2 clock hours of atypical vascular patterns in the left eye in the far periphery, but with full perfusion. A diagnosis of familial exudative vitreoretinopathy was made, and the patient underwent surgery in the right eye.

Examination under anesthesia 2 months postoperatively showed improvement in the right eye and continued normal findings on examination in the left eye. However, 3 months later, repeated examination of the left eye under anesthesia revealed a discrete lesion that was round, mildly raised, dark charcoal gray, and nasal to but not involving the disc, which was not present on prior examinations (Figure 2A). Preretinal glial proliferation was present over the surface, and the surrounding retinal vasculature was contracted toward the lesion. Fluorescein angiography confirmed a tumor at the level of the retina and retinal pigment epithelium (Figure 2B), consistent with a presumed combined hamartoma of the retina and retinal pigment epithelium. Optical coherence tomography and ultrasonography were not performed, although they are not required for the diagnosis. Continued observation for 2 months more showed subtle growth of the tumor with additional gliosis.

Discussion

Gass1 described 7 patients with combined hamartoma and synthesized his findings with previous reports, establishing a new clinical entity. He proposed that “they probably are present at birth, and they probably represent focal areas of maldevelopment of the pigment epithelium, retina, blood vessels, and overlying vitreous.”1 The youngest patient in his series was 19 months old.1 In the Macula Society’s subsequent collaborative report,2 the mean age was 15 years and the youngest patient was aged 10 months. Shields et al3 described the youngest patient at age 2 weeks. This trend of early presentations seemed to validate Gass’ inference that these are congenital lesions present at birth.

In contrast, we report a case in which a presumed combined hamartoma developed after birth—seemingly de novo—between ages 8 and 11 months. Although there are a few reports of acquired combined hamartomas,46 these previous cases involved distinct insults to regions that involved or were contiguous with areas that eventually developed hamartomas, such as optic disc edema4,5 and vitreomacular traction6—suggesting, rather, that these lesions were acquired hamartoma-like reactive gliosis and hyperpigmentation.6 Our patient has mild familial exudative vitreoretinopathy in the left eye, but the mild vascular changes are in the far periphery, well separated from the hamartoma, and the area that developed the lesion was fully vascularized and free of macroscopic damage or other inciting primary pathology.

We cannot, of course, completely discount the influence of familial exudative vitreoretinopathy as presumed global wnt signaling aberrations, which, although unlikely, may have altered the timing of the hamartomatous growth. Additionally, we do not infer that all combined hamartomas are acquired; in considering the series by Shields et al,3 it is more likely that a hamartoma in a 2-week-old patient was indeed present at birth.4

In summary, we report a presumed combined hamartoma that was acquired after birth in a child whose fellow eye’s presentation allowed incidental observation of its development.

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Article Information

Corresponding Author: Antonio Capone Jr, MD, Associated Retinal Consultants, William Beaumont Hospital, 3535 W 13th Mile Rd, Ste 344, Royal Oak, MI 48073 (acaponejr@arcpc.net).

Published Online: June 4, 2015. doi:10.1001/jamaophthalmol.2015.1675.

Author Contributions: Dr Capone had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.

Study concept and design: Yonekawa, Trese, Capone.

Acquisition, analysis, or interpretation of data: Yonekawa, Thomas, Drenser, Capone.

Drafting of the manuscript: Yonekawa, Trese.

Critical revision of the manuscript for important intellectual content: Yonekawa, Thomas, Drenser, Capone.

Administrative, technical, or material support: Capone.

Study supervision: Drenser, Trese, Capone.

Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.

Funding/Support: Dr Yonekawa is supported in part by the Heed Ophthalmic Foundation.

Role of the Funder/Sponsor: The Heed Ophthalmic Foundation had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

Previous Presentation: This case was presented at the 2015 Atlantic Coast Retina Club Meeting; January 8, 2015; Boston, Massachusetts.

References
1.
Gass  JD.  An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma. Trans Am Ophthalmol Soc. 1973;71:171-185.
PubMed
2.
Schachat  AP, Shields  JA, Fine  SL,  et al.  Combined hamartomas of the retina and retinal pigment epithelium. Ophthalmology. 1984;91(12):1609-1615.
PubMedArticle
3.
Shields  CL, Thangappan  A, Hartzell  K, Valente  P, Pirondini  C, Shields  JA.  Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients visual outcome based on macular versus extramacular tumor location. Ophthalmology. 2008;115(12):2246-2252.e3.
PubMedArticle
4.
Hrisomalos  NF, Mansour  AM, Jampol  LM, Fowell  SM, Greenwald  MJ.  "Pseudo”-combined hamartoma following papilledema: case report. Arch Ophthalmol. 1987;105(12):1634-1635.
PubMedArticle
5.
Ticho  BH, Egel  RT, Jampol  LM.  Acquired combined hamartoma of the retina and pigment epithelium following parainfectious meningoencephalitis with optic neuritis. J Pediatr Ophthalmol Strabismus. 1998;35(2):116-118.
PubMed
6.
Singh  AD, Agarwal  A. Tumors of the retinal pigment epithelium. In: Agarwal  A, ed. Gass’ Atlas of Macular Diseases. 5th ed. New York, NY: Saunders; 2012:1090-1091.
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