Combined Hamartoma of the Optic Disc and Retinal Pigment Epithelium—3 Years of the Follow-Up with Semi-Automated Kinetic Perimetry

doi:10.4236/ojoph.2012.24025

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Open Journal of Ophthalmology, 2012, 2, 116-118

http://dx.doi.org/10.4236/ojoph.2012.24025 Published Online November 2012 (http://www.SciRP.org/journal/ojoph)

Combined Hamartoma of the Optic Disc and Retinal

Pigment Epithelium—3 Years of the Follow-Up with

Semi-Automated Kinetic Perimetry

Katarzyna Nowomiejska1, Tomasz Zarnowski2, Robert Rejdak1,3,4, Anselm Juenemann5

1Department of General Ophthalmology, Medical University, Lublin, Poland; 2Department of Glaucoma Diagnostics and Microsur-

gery, Medical University, Lublin, Poland; 3Department of Pathophysiology of Vision and Neuro-Ophthalmology, University Eye

Hospital, Tuebingen, Germany; 4Department of Experimental Pharmacology , Mossakowski Medical Research Centre, Polish Academy

of Sciences, Warsaw, Poland; 5Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany.

Email: [email protected]

Received June 21st, 2012; revised September 18th, 2012; accepted October 7th, 2012

ABSTRACT

Aim: To present a case of hamartoma of the optic disc and Retinal Pigment Epithelium (RPE) and follow up of the visual

function over three-years period. Methods: A seventeen-year-old boy has observed reduced visual acuity in his left eye.

The visual acuity was 0.2 and there was RAPD in the left eye. Fundoscopy revealed an elevation of the optic disc ob-

scuring disc vessels with epiretinal gliosis. Fluorescein angiography demonstrated hyperfluorescent saccular dilatations

with leakage in the late phase. Ocular Coherence Tomography (OCT) showed hyperreflective elevation of the optic disc

and epiretinal membrane. There was a juxtapapillary scotoma in Semi-automated Kinetic Perimetry (SKP). There was

no systemic diseases. Results of blood tests, CT and MRI of CNV were normal. Results: After 3 years period of the

follow-up the visual acuity was 0.1 and there was a progression of the visual field defect to the altitudinal scotoma in

the upper hemisphere. Fluorescein anhiography and OCT revealed the same. Conclusion: Hamartoma of RPE and optic

disc is a rare condition consisting of glial, vascular and RPE cells. It should be differentiated from optic disc oedema

and vascular tumors of the retina. Assessment of the visual function is very important in the longitudinal follow-up.

Keywords: Hamartoma; Perimetry; Optic Disc

1. Case

A 17-year-old male has observed slow, progressive and

painless reduction of the visual acuity of his left eye for

two years. He had no systemic diseases, only meningitis

after virus infection in childhood (8 years old) was re-

ported. He had no significant family history. The best

corrected visual acuity at presentation was 20/20 in the

right eye and 20/80 in the left eye. Intraocular pressure

was 20 mm·Hg in both eyes. Co lor vision and eye move-

ments were normal. There was RAPD in the left eye.

Anterior segment was normal. Fundus was normal in the

right eye. In the left eye fundoscopy revealed elevated

optic disc margins with scattered hiperpigmentstion ob-

scuring major disc vessels (Figure 1). Additionally, there

was an epiretinal gliosis and traction involving the macula.

Flurescein angiography (HRA2, Heidelberg Enginering,

Germany) demonstrated early hyperfluorescence through-

out the lesion and saccular dilatations with leakage in the

late phase (Figure 2), OCT (Cirru s HD-OCT Model 400,

Carl Zeiss, Meditec, Dublin, CA, USA) revealed the dis-

tortion of the retinal architecture, hyperreflective retinal

elevation and epiretinal membrane.

Visual field of the right eye was normal, in the left eye

juxtapapillary scotoma was observed (Figure 3 left).

Perimetry was performed using Semi-automated Kinetic

Perimetry (SKP) implemented in Octopus 101 and Oc-

topus 900 instrument. MRI and CT examinations were

described as normal. In the neurological examination no

pathological signs were observed. The systemic studies

produced no abnormalities.

Three years later the visual acuity was 0.1 in the left

eye, the visual field has progressed to altitudinal scotoma

in the upper hemisphere (Figure 3 right). The fundus and

fluorescein angiography appeared the same. There was

no treatment applied.

2. Discussion

Hamartoma of the optic disc and Retinal Pigment Ep ithe-

lium (RPE) is a rare benign congenital ocular tumor de-

scribed first by Gass [1]. It is single, solitary and unila-

Combined Hamartoma of the Optic Disc and Retinal Pigment Epithelium—3 Years of the Follow-Up with

Semi-Automated Kinetic Perimetry 117

Figure 1. Fundus photograph of the left eye showing pig-

ment epithelium hamartoma of the optic disc.

Figure 2. Fluorescein angiography (Spectralis HRA2, Hei-

delberg Enginering, Germany) of the left eye showing early

phase (0:21 min.)—at the top and late phase with leakage

(4:51 min.)—below.

Figure 3. Result of semi-automated kinetic perimetry of the

left eye. Three isopters I2e, I4e and III4e. Baseline exami-

nation (Octopus 101)—juxtapapillary scotoma (top). Pe-

rimetry after three years (Octopus 900)—altitudinal scot oma

in the upper hemisphere (bottom).

teral intraocular tumor. Histologically, it is composed of

three cell populations: pigmented, glial and vascular.

Different proportions of these cells are responsible for

various clinical pictures. Usually hamartoma of the retina

and RPE are located close to the optic disc in 76%, in the

macula in 17% and in the periph eral retina in 17%. Only

few cases have been described so far localized within the

optic nerve head [2].

Combined Hamartoma of the Optic Disc and Retinal Pigment Epithelium—3 Years of the Follow-Up with

Semi-Automated Kinetic Perimetry

118

The diagnostics is based on fundoscopy and confirmed

by fluorescein angiography and Ocular Coherence To-

mography (OCT). The presenting syndrome is painless

unilateral silent visual loss. The patients are usually as-

ymptomatic until the late childhood. The anterior seg-

ment is not affected. There are anecdotical reports on

systemic associations with neurofibromatosis type II and

tuberous sclerosis. RPE hamartomas usually show no

growth potential. Hamartoma of the retina and RPE can

generate a large papillary and retinal distortion [3], thu s it

is often accompanied with vascular tortuosity and epire-

tinal membrane. Secondary changes as vitreous hemor-

rhage, Choroidal Neovascular Membrane (CNV) or retinal

detachment [4] on some occasions may cause visual loss.

There have been reports describing pars plana vitrectomy

due to epiretinal membrane following hamartoma [5] or

submacular surgery due to CNV [6].

In our case there was a slight progression of the visual

function—both visual acuity and visual field during three

years of the follow-up. The visual field defect has ex-

tended to the periphery. It was well documented using

SKP. This method enables examination of the entire visual

field using moving stimuli. The results are comparable to

Goldmann manual kinetic perimetry [7], however it is

more standardized and not so examiner-dependent.

The structural examinations as OCT and fluorescein

angiography appeared the same.

In conclusion, hamartoma of RPE and optic disc could

be a vision devastating tumor. Differential diagnosis

should include papilloedema, vascular tumors (heman-

gioma), primary optic disc tumors as astrocytoma and

melanocytoma, secondary optic disc tumors as metastatic

tumor and leukemia and tumors invading the optic nerve

from adjacent structures (retinoblastoma, choroidal mela-

noma and meningioma) [8]. It is very important to dif-

ferentiate these conditions as there are specific systemic

associations, treatment and prognosis associated with them.

Hamartoma may be also confused with teratoma, com-

posed of tissue foreign to the site of growth. The major

difference is that teratoma can be increasing while hama-

rtoma usually is not sustained growth.

Regular follow-up of the structure and function is

necessary for successful management of hamartoma of

the optic nerve and RPE. To monitor carefully the visual

function, especially the peripheral visual field, it seems

to be advisable to perform SKP in patients with this rare

condition.

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