This is the first study to elucidate the overall distribution of sub-basal nerves in the healthy, live central to mid-peripheral human cornea by laser scanning in vivo confocal microscopy. The whorl pattern of the sub-basal nerves is similar to that seen in the epithelium in corneal verticillata and may lend support to the theory that epithelial cells and nerves migrate centripetally in tandem.

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Keratoconus is a relatively common, bilateral, non-inflammatory corneal ectasia. The aetiology of this condition is probably multifactorial, or it represents the final common pathway for a variety of different pathological processes. Although a familial history is present only in a minority of cases, one of the major aetiological factors is certainly genetic. This is evidenced by: the condition's familial inheritance; its discordance between monozygotic and dizygotic twins; and its association with other known genetic disorders such as Down's and Marfan's syndromes. In the keratoconic cornea, a possible genetic predisposition to increased sensitivity to apoptotic mediators by keratocytes has also been hypothesized. Differences in prevalence between ethnic groups have been identified. Recent advances in computerized topographic diagnostic techniques for keratoconus, including forme fruste keratoconus, enables higher accuracy in delineating abnormal from normal, and helps define study populations for genetic linkage studies. However, genetic heterogeneity and the phenotypic diversity of keratoconus means that genetic analysis continues to be a complex process. None the less, it is foreseeable that over the next decade, improved diagnostic techniques, in combination with molecular genetics, may reveal conclusive data on the precise nature of the genetic inheritance of keratoconus in specific populations. This review considers the evidence that suggests keratoconus is primarily an inherited condition, and examines research strategies aimed at unveiling the genetic predisposition, and the enigma of environmental influences on its phenotypic expression.

Aim To investigate and correlate the corneal, refractive, topographic and familial characteristics of a large cohort with keratoconus. Methods Prospective observational study of 200 consecutive patients presenting with keratoconus during the 4 year-period 1997-2000. Subjects were examined at enrolment and at a final review. Data were collected on demographic characteristics, referral route, symptoms, refractive correction, eye rubbing, family history, medical history, slit-lamp biomicroscopic corneal signs, and computerized corneal topography. Results Mean age at enrolment was 30.9710.4 (range, 12.2-72) years (N ¼ 200, 62.5% male, 93% white Caucasian) with a 5% family history of keratoconus. Atopic diseases included asthma (23%), eczema (14%), and hay fever (30%). Only 9% wore contact lenses before referral. Mean follow-up was 1004 days 7282 (range, 390-1335) and 9.778.9 (range, 1.1-60) years from diagnosis. The mean simulated K1 corneal power at enrolment was 51.7475.36 (range, 42.59-67.32) D and 88.5% exhibited bilateral keratoconus. Fifty-three (15%) topographically confirmed cones exhibited no clinical corneal signs at presentation. At enrollment, 56% had a pachymetry o0.480 mm increasing to 77% at final review. Forty-eight percent of subjects reported significant eye rubbing and there was a highly statistically significant difference (two sample t-test P ¼ 0.018) between keratoconus and control groups. TMS-2 axial corneal power was strongly associated with corneal scarring and age at diagnosis. The size of the scarring effect was 2.2 D (95% confidence interval (CI) 1.34, 3.06). Conclusions This study provides an overview of a large population with keratoconus highlighting presenting features and clinical and topographic progression over a 4 year-period.