PURPOSE To report on the biometric findings of adults and children with Marfan syndrome (MFS) recruited from 2 annual National Marfan Foundation conferences (2012 and 2015). DESIGN Cross-sectional study. METHODS Subjects diagnosed with MFS by Ghent 2 nosology were included for analysis. Subjects were divided into “adults” (≥16 years of age) and “children” (5–15 years of age). Biometric data included values for refractive error, axial length (AL), corneal curvature, anterior chamber depth, lens thickness, and central corneal thickness. RESULTS Of the 117 subjects evaluated, 74 (35 adults, 32 children, and 7 children <5 years of age) had a definite diagnosis of MFS and were included in the study. The AL was longer (25.25 ± 0.32 mm vs 24.24 ± 0.33 mm, P [ .03) and the lens was thicker (3.94 ± 0.09 mm vs 3.62 ± 0.10 mm, P [ .03) in adults. Both groups had flat corneas (average keratometry [Kmed] of 41.59 ± 0.35 diopters [D] in adults vs 40.89 ± 0.36 D in children, P [ .17). A negative correlation was found between AL and Kmed (L0.33, P < .001). The corneas of patients with MFS with ectopia lentis (EL) were significantly flatter and with higher degree of corneal astigmatism compared to patients without EL (Kmed of 40.68 ± 0.31 D vs 41.75 ± 0.28 D, P < .01 and corneal astigmatism of 1.68 ± 0.16 D vs 1.13 ± 0.14 D, P =.01). CONCLUSIONS Children with established MFS have flat corneas at least to the same degree as adults. Corneas of patients with MFS with EL are flatter and have a higher degree of corneal astigmatism. We strongly suggest that corneal parameters should be measured if MFS is suspected, especially in children that may not yet have developed EL.

Keywords dry eye; blinking; blepharospasm; eyelid movements; blink oscillations; brainstemThe primary purpose of the eyelids is to ensure corneal integrity. An important component of this protective function is maintaining the corneal tear film. Blink characteristics can determine tear film stability. Increasing blink amplitude thickens the lipid layer that overlies the aqueous layer of the tear film. This thickening reduces evaporation of the aqueous layer. Because each blink reforms the tear film, increasing blink frequency reduces tear film breakup. [1][2][3][4] Both innocuous stimuli such as air across the eyelashes, and noxious stimuli such as touching the cornea, elicit trigeminal reflex blinks. If abnormal corneal afferent activity caused by corneal irritation acts as an "error signal" that adjusts the amplitude and frequency of reflex blinks evoked by both innocuous and corneal stimuli, then corneal irritation creates an adaptive blink response regardless of whether a corneal or an innocuous trigeminal stimulus elicits the blink.An investigation of the effects of aging on trigeminal blinks 5 supports the hypothesis that corneal irritation modifies trigeminal reflex blinks evoked by innocuous stimuli. In people over age 40 years, a single innocuous, supraorbital (SO) nerve stimulus frequently evokes a reflex blink and additional blinks that occur at a nearly constant interval relative to the onset of the preceding blink, blink oscillations. Because blink oscillations are more frequent and larger than reflex blinks, this modification increases tear film stability. Peshori and colleagues 5 propose that the development of consistent blink oscillations in many individuals over age 40 years is a blink adaptation that compensates for the subclinical reduction in corneal wetting that accompanies aging. 6 This hypothesis predicts that innocuous SO stimuli should produce more blink oscillations in people with dry eye than in age-matched control subjects. We test this prediction by comparing the SO-evoked blinks of individuals with dry eye with those of age-matched controls. Given the frequent occurrence of dry eye at the onset of benign essential blepharospasm (BEB), 7 blink modifications associated with dry eye may play a role in the origin of BEB. We present a hypothesis that links the adaptive processes initiated by dry eye with the origin of BEB. METHODSMeasurements of eyelid movement and orbicularis oculi electromyographic (OOemg) activity were made on seven subjects, ranging in age from 44 to 72 years of age. Five female subjects had been diagnosed with dry eye at the SUNY Stony Brook Ophthalmology Clinic. The data from these subjects were compared with those from age-matched control subjects in another study. 5 Two normal subjects, a man and a woman, participated in an experimental paradigm described below. Apart from dry eye, no subject had any ocular disorders other than the need for corrective lenses. A previous study 8 detailed measurement of lid movements and OOemg used in the current study. Upper eye...

Eyelid asymmetry results from differences in the excitability of motoneurons in the left and right facial motor nuclei and does not appear to involve asymmetries in cortical inputs to the brain stem. Because adaptive processes modify the motoneuron excitability that creates eyelid asymmetry, these processes may underlie changes in blinking associated with facial palsy and may play a role in the development of disorders that affect one side of the face, such as hemifacial spasm.

We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features consistent with a severe phenotype of ablepharon-macrostomia syndrome (AMS) including a fish-like appearance of the mouth, rudimentary ears, absence of body hair, thin skin, absent nipples, abdominal distension, and genital abnormalities. Upon presentation, there was severe exposure keratopathy causing large bilateral sterile ulcers culminating in corneal melting of both eyes. An amniotic membrane graft was used to attempt to maintain the corneal surface integrity. However, because of the late presentation, the corneas could not be salvaged. Extensive surgical reconstruction of both eyelids and bilateral penetrating keratoplasty was ultimately performed successfully to protect the ocular surfaces while trying to maximize the visual potential. Early amniotic membrane grafting may be done at the bedside and may help preserve the ocular in patients with severe eyelid deformities until more definitive treatment is performed.