Journal List > J Korean Ophthalmol Soc > v.52(12) > 1008957

Park and Kim: Clinical Manifestations of Foveal Hypoplasia

Abstract

Purpose

To estimate the baseline demographic/ocular characteristics and associated findings of patients with foveal hypoplasia.

Methods

The medical records of 42 patients (84 eyes) who were clinically diagnosed with foveal hypoplasia were retrospectively reviewed.

Results

There were 28 males and 14 females with mode age at diagnosis of 1 (range, 0-60 years) year and a mean followup period of 9.7 ± 5.4 years. At the first office visit, the most common complaints were ocular oscillation and face turn. There were 75 eyes (91.5%) with best corrected visual acuity worse than 0.3 at the first visit, but that number decreased to 55 eyes (67.1%) at the last followup (age range, 7-60 years). The absolute spherical equivalent of refractive errors was 2.89 ± 2.96 diopters (D), and 71 eyes had astigmatism with a mean astigmatism of 2.1 ± 1.1 D. Forty-two patients had associated diseases: 15 (35.7%) with aniridia, 16 (38.1%) with ocular albinism and 11 (26.2%) with oculocutaneous albinism. In addition, strabismus was found in 24 patients (57.1%).

Conclusions

Diseases associated with foveal hypoplasia include aniridia, ocular albinism and oculocutaneous albinism. Since foveal hypoplasia is often associated with high refractive errors and poor vision, an early prescription of eyeglasses is mandatory for management of refractive amblyopia to ensure the development of the best corrected visual acuity.

References

1. Oliver MD, Dotan SA, Chemke J, Abraham FA. Isolated foveal hypoplasia. Br J Ophthalmol. 1987; 71:926–30.
crossref
2. Vincent A, Kemmanu V, Shetty R, et al. Variable expressivity of ocular associations of foveal hypoplasia in a family. Eye (Lond). 2009; 23:1735–9.
crossref
3. Summers CG, Knobloch WH, Witkop CJ Jr, King RA. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology. 1988; 95:545–54.
4. Kokotas H, Petersen MB. Clinical and molecular aspects of aniridia. Clin Genet. 2010; 77:409–20.
crossref
5. Holmstrom G, Eriksson U, Hellgren K, Larsson E. Optical coherence tomography is helpful in the diagnosis of foveal hypoplasia. Acta Ophthalmol. 2010; 88:439–42.
6. McAllister JT, Dubis AM, Tait DM, et al. Arrested development: high-resolution imaging of foveal morphology in albinism. Vision Res. 2010; 50:810–7.
crossref
7. Fonda G. Characteristics and low-vision corrections in albinism. A report of 161 patients. Arch Ophthalmol. 1962; 68:754–61.
8. Chong GT, Farsiu S, Freedman SF, et al. Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. Arch Ophthalmol. 2009; 127:37–44.
crossref
9. Lee KA, King RA, Summers CG. Stereopsis in patients with albinism: clinical correlates. J AAPOS. 2001; 5:98–104.
crossref
10. Edmunds RT. Vision of albinos. Arch Ophthal. 1949; 42:755–67.
crossref
11. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007; 2:43.
crossref
12. Donahue SP, Arnold RW, Ruben JB. Preschool vision screening: what should we be detecting and how should we report it? Uniform guidelines for reporting results of preschool vision screening studies. J AAPOS. 2003; 7:314–6.
crossref
13. Anderson J, Lavoie J, Merrill K, et al. Efficacy of spectacles in persons with albinism. J AAPOS. 2004; 8:515–20.
crossref
14. Cavazos H, Haase W, Meyer E. Ametropic amblyopia. Strabismus. 1993; 1:63–7.
crossref

Figure 1.
Fundus pictures of patients with foveal hypoplasia. (A) Fundus photograph of foveal hypoplasia with aniridia. (B) Fundus photograph of foveal hypoplasia with oculocutaneous albinism.
jkos-52-1496f1.tif
Table 1.
Grading scheme of iris transillumination and macular transparency
Grade Description
Iris transillumination  
 Grade 1 Marked amount of iris pigment; minimal punctuate transillumination
 Grade 2 Moderate amount of iris pigment; diffuse punctuate iris transillumination, often irregular in location
 Grade 3 Minimal amount of iris pigment; almost complete transillumination
 Grade 4 No iris pigment; full iris transillumination
Macular transparency  
 Grade 1 Choroidal vessels easily visible in the macula
 Grade 2 Choroidal vessels visible in the macula, but indistinct because of translucent-appearing retinal pigment epithelium
 Grade 3 Choroidal vessels not visible in the macula

From: Summers CG, Knobloch WH, Witkop CJ Jr, King RA. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology 1988;95:545-54.

Table 2.
Demographic characteristics of 42 patients with foveal hypoplasia at first visit
Age (yr) Male (%) Female (%)
<1 9 (32.1) 5 (35.7)
1-5 6 (21.4) 5 (35.7)
6-10 7 (25.0) 1 (7.1)
11-15 0 (0) 1 (7.1)
16-20 3 (10.7) 0 (0)
>20 3 (10.7) 2 (14.3)
Total 28 (100) 14 (100)
Table 3.
Distribution of initial & final best corrected visual acuity of the eyes with foveal hypoplasia
Visual acuity No. of initial BCVA (%) No. of final BCVA (%)
FC at 10 cm - <0.1 24 (29.3) 6 (7.3)
0.1 28 (34.1) 14 (17.1)
0.15 18 (22.0) 17 (20.7)
0.2 5 (6.1) 18 (21.9)
0.3 6 (7.3) 13 (15.9)
0.4 1 (1.2) 8 (9.8)
0.5 0 (0) 4 (4.9)
0.7 0 (0) 2 (2.4)
Total 82 (100) 82 (100)

Two eyes of a person with mental retardation were excluded.

FC = counting fingers; BCVA = best corrected visual acuity.

Table 4.
Spherical equivalent and cylinder of refractive errors of 84 eyes with foveal hypoplasia
  No. of eyes (%)
Spherical equivalent (D)  
 Myopia 30 (35.7)
  ≥-4.00 10 (11.9)
  -3.90 to −2.00 3 (3.6)
  <-2.00 17 (20.2)
 Emmetropia 6 (7.1)
 Hyperopia 48 (57.1)
  <+2.00 18 (21.4)
  +3.90 to +2.00 18 (21.4)
  ≥ +4.00 12 (14.3)
Cylindrical refractive errors (D)  
 0 13 (10.5)
 ≤0.50 7 (9.9)
 0.75-1.00 14 (19.7)
 1.25-1.50 5 (7.0)
 1.75-2.00 14 (19.7)
 2.25-2.50 13 (18.3)
 2.75-3.00 8 (11.3)
 3.25-3.50 3 (4.2)
 3.75-4.00 5 (7.0)
 4.25-4.50 1 (1.4)
 4.75-5.50 1 (1.4)

D = diopters.

Table 5.
Associated strabismus of 42 patients with foveal hypoplasia
Strabismus No. of eyes
Exotropia 17
  Intermittent exotropia 3
  Constant exotropia 14
Esotropia 7
  Accommodative esotropia 3
  Non-accommodative esotropia 4
Inferior oblique overaction 2
Superior oblique overaction 1
None 18

Some of them are overlapped.

Table 6.
Iris characteristics and macular transparency of 42 patients with foveal hypoplasia
  No. of eyes (%)
Iris characteristics  
  Normal 12 (28.6)
  Transillumination Grade 1 7 (16.7)
  Transillumination Grade 2 4 (9.5)
  Transillumination Grade 3 3 (7.1)
  Transillumination Grade 4 1 (2.4)
  Aniridia 15 (35.7)
Macular transparency  
  Grade 1 9 (21.4)
  Grade 2 18 (42.9)
  Grade 3 2 (4.8)
  Cannot know (not described) 13 (31.0)
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