Abstract
Background
The purpose of this paper is to report a case of idiopathic isolated fovea plana showing asymmetry in the multifocal electroretinogram (mfERG).
Methods
We carried out optical coherence tomography (OCT) imaging, macular pigment density measurement, genetic testing and electrophysiological testing with visual evoked potentials and mfERGs on a young, highly myopic female of Pakistani origin, who had good visual acuity and no nystagmus.
Results
OCT imaging revealed a complete absence of any foveal pit in either eye. Macular pigment density was normal and visual evoked potentials indicated normal chiasmal crossings, excluding albinism. Genetic testing revealed normal PAX6 coding data, excluding aniridia as a cause. mfERGs showed asymmetry consistent with off-centre fixation to the temporal side of the fovea in both eyes, but were otherwise normal.
Conclusion
Lack of a foveal pit is a well-known finding in conditions such as oculocutaneous albinism and PAX6 gene-related aniridia. Isolated fovea plana is less common, and this case illustrates that the absence of a foveal pit does not necessarily result in a poor visual outcome. The finding of asymmetry in the mfERG in such a case is novel, and may indicate a functional adaptation to the structure of the fovea.
References
Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, Andrews C, Chan WM, Thomas S, Gottlob I (2011) Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography: a predictor of visual acuity? Ophthalmology 118(8):1653–1660
Yuodelis C, Hendrickson A (1986) A qualitative and quantitative analysis of the human fovea during development. Vis Res 26(6):847–855
Biswas S, Lloyd IC (1999) Oculocutaneous albinism. Arch Dis Child 80(6):565–569
Meyer CH, Lapolice DJ, Freedman SF (2002) Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. Am J Ophthalmol 133(3):409–410
Kokotas H, Petersen MB (2010) Clinical and molecular aspects of aniridia. Clin Genet 77(5):409–420
Goldberg MF, Custis PH (1993) Retinal and other manifestations of incontinentia pigmenti (Bloch–Sulzberger syndrome). Ophthalmology 100(11):1645–1654
De Novelli FJ, Nóbrega MJ, Rosa EL, Bortolotto CMF, Kuntz J (2009) Posterior segment changes in microphthalmic eyes: case report. Arq Bras Oftalmol 72(5):697–700
Querques G, Prascina F, Iaculli C, Delle Noci N (2009) Isolated foveal hypoplasia. Int Ophthalmol 29(4):271–274
Marmor MF, Choi SS, Zawadzki RJ, Werner JS (2008) Visual insignificance of the foveal pit: reassessment of foveal hypoplasia as fovea plana. Arch Ophthalmol 126(7):907–913
Curran RE, Robb RM (1976) Isolated foveal hypoplasia. Arch Ophthalmol 94(1):48–50
Oliver MD, Dotan SA, Chemke J, Abraham FA (1987) Isolated foveal hypoplasia. Br J Ophthalmol 71(12):926–930
Hood DC, Bach M, Brigell M, Keating D, Kondo M, Lyons JS, Marmor MF, McCulloch DL, Palmowski-Wolfe AM (2012) ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition). Doc Ophthalmol 124(1):1–13
Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE (2003) The clinical features of albinism and their correlation with visual evoked potentials. Br J Ophthalmol 87(6):767–772
Brecelj J, Sustar M, Pecaric-Meglic N, Skrbec M, Stirn-Kranjc B (2012) VEP characteristics in children with achiasmia, in comparison to albino and healthy children. Doc Ophthalmol 124(2):109–123
Prosser J, van Heyningen V (1998) PAX6 mutations reviewed. Hum Mutat 11(2):93–108
Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, van Heyningen V, Mackey DA (2007) PAX6 mutations may be associated with high myopia. Ophthalmic Genet 28(3):179–182
Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M (1996) PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet 13(2):141–142
Hever AM, Williamson KA, van Heyningen V (2006) Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. Clin Genet 69(6):459–470
Seo JH, Yu YS, Kim JH, Choung HK, Heo JW, Kim SJ (2007) Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism. Ophthalmology 114(8):1547–1551
Silva MF, Mateus C, Reis A, Nunes S, Fonseca P, Castelo-Branco M (2010) Asymmetry of visual sensory mechanisms: electrophysiological, structural, and psychophysical evidences. J Vis 10(6):26
Odom JV, Bach M, Brigell M, Holder GE, McCulloch DL, Tormene AP, Vaegan (2010) ISCEV standard for clinical visual evoked potentials (2009 update). Doc Ophthalmol 120(1):111–119
Kriss A, Russell-Eggitt I, Taylor D (1990) Childhood albinism. Visual electrophysiological features. Ophthalmic Paediatr Genet 11(3):185–192
Acknowledgments
We would like to thank Professor Veronica van Heyningen for facilitating the genetic testing and for comments on the manuscript, Dr. Abdlsaed Al Abdlsaead for assistance with VEP recording and analysis, and Asim Sheikh for measuring the macular protective pigment density. We would also like to acknowledge the patience of our subject and thank her for giving up her time to undertake the various clinical investigations. This case was presented in the clinical cases session of the XLIX International Symposium of ISCEV, Quebec City, Canada, September 2011.
Conflict of interest
None.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
McTrusty, A.D., McCulloch, D.L., Strang, N.C. et al. Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs. Doc Ophthalmol 126, 171–176 (2013). https://doi.org/10.1007/s10633-012-9369-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10633-012-9369-3