Copyright 2002 American Medical Association. All Rights Reserved.
Applicable FARS/DFARS Restrictions Apply to Government Use.2002
It is frequently difficult to diagnose ocular albinism or foveal hypoplasia
in patients who have darkly pigmented hair, skin, or irides. Fundus findings
may be subtle and most commonly include the absence of foveal pigmentation
or the circumfoveal light reflex.1 Traditionally
in such cases, the diagnosis has been based on the detection of nystagmus
coupled with fluorescein angiographic demonstration of a poorly formed capillary-free
zone. Since these findings may be difficult to detect, especially in the setting
of nystagmus, foveal hypoplasia may be more common than is generally believed.
Optical coherence tomography (OCT) is a noninvasive imaging modality
that produces high-resolution, 2-dimensional images of ocular structures.
We report the use of OCT to establish a diagnosis of foveal hypoplasia in
a patient with decreased vision, in whom the diagnosis had been suspected
A 45-year-old white woman was referred for evaluation of bilaterally
decreased vision. She related a history of nystagmus, high myopia, and poor
vision since childhood. She was not born prematurely and was systemically
healthy. Her family history was notable for poor vision, nystagmus, and early
cataracts in her paternal grandmother, father, and sister.
The patient exhibited no signs of cutaneous albinism. Her best-corrected
visual acuity was 20/80 OU and her pupillary responses were normal. Mild horizontal
nystagmus and a 15 prism diopter exotropia were present. A 1-mm corneal pannus
encompassed the superior 270° of each eye. The fundi were lightly pigmented.
The optic nerves were normal. In each eye, the retinal vessels were slightly
dragged temporally, and foveal reflexes were absent (Figure 1).
Representative color photographs
of the left fundus reveals an ill-defined capillary-free zone. The foveal
light reflex is absent.
Fluorescein angiography revealed an irregular capillary-free zone in
each eye. In the right eye, several vessels traversed the peripheral aspects
of the capillary-free zone. No choroidal neovascularization was seen in either
eye. Electroretinographic amplitudes were within normal limits.
Following pupillary dilation, a commercial OCT unit (Humphrey Instruments,
Zeiss-Humphrey, San Leandro, Calif) was used to obtain 5.92-mm radial sections
through the entire macular area of each eye (Figure 2A and B). Standard OCT software was used to generate retinal
topographic measurements. In all sections, the retina was of normal thickness
and no foveal depression was detectable (Figure 2 D and E). Instead, there was continuity of multiple retinal
layers through the area where the foveal center was expected to be located.
NFL indicates nerve fiber layer;
IPL, inner plexiform layer; OPL, outer plexiform layer; and RPE, retinal pigment
epithelium. A and B, Representative optical coherence tomographic (OCT) section
through the center of the macular area of the right (A) and left (B) eyes
of our patient. The asterisk denotes the expected location of the fovea. The
posterior hyaloid is attached, and multiple inner retinal layers are preserved.
C, OCT of a normal adult macula provided for comparison demonstrates a normal
foveal depression. D and E, Retinal topography of the right (D) and left (E)
eyes of our patient shows a uniform thickness of approximately 260 µm,
which is compatible with normal retinal thickness found in a perifoveal location.
F, Retinal topography of a normal adult macula is provided for comparison.
Foveal hypoplasia is an ocular abnormality that may be seen in isolation
or in association with other ocular or systemic signs. Typical associated
findings include nystagmus, aniridia or iris transillumination, cataract,
and skin hypopigmentation. Visual acuity is in the range of 20/50 to 20/200.1 An autosomal dominant syndrome of congenital nystagmus,
foveal hypoplasia, corneal pannus, and presenile cataracts has been reported,2 and our patient's phenotype and family history
are most compatible with this syndrome. In cases with only moderate reduction
in vision or without associated signs, the diagnosis of foveal hypoplasia
may not be straightforward. The differential diagnosis includes high myopia,
early retinal degeneration, and retinopathy of prematurity.
Optical coherence tomography allows detailed examination of macular
anatomy. It can thus provide insight into the foveal architecture in patients
with foveal abnormalities or visual impairment as well as confirmation of
clinical diagnosis, perhaps even obviating the need for electroretinography
The OCT findings in this case offer insight into the microanatomy of
foveal hypoplasia. Normally, the foveal declivity is evidenced angiographically
by a termination of capillaries. Histologically, this area consists of cone
photoreceptors and lacks several of the inner retinal layers as well as retinal
In histologic specimens of foveal hypoplasia, by contrast, the structure
of the central macula resembles that of the peripheral macula, with persistence
of ganglion cells and nuclear layers.4 These
histologic findings are recapitulated in our patient's OCT data, which show
preservation of multiple inner retinal layers when there should be none. We
are aware of no other conditions that may produce similar OCT findings. Perhaps
a more accurate term for this condition, then, is foveal
dysgenesis. In summary, OCT provided a definitive diagnosis of foveal
hypoplasia and may prove helpful in the diagnosis of patients with unexplained
Support for this research was provided by the Heed Ophthalmic Foundation,
Cleveland, Ohio (Dr Recchia).
None of the authors has any proprietary or financial interest in any
material or instrumentation presented herein.
Corresponding author and reprints: Michael T. Trese, MD, Associated
Retinal Consultants, PC, 3535 W 13 Mile Rd, Suite 632, Royal Oak, MI 48073
Recchia FM, Carvalho-Recchia CA, Trese MT. Optical Coherence Tomography in the Diagnosis of Foveal Hypoplasia. Arch Ophthalmol. 2002;120(11):1587-1588. doi: