OCULAR SURFACE, KERATOMETRIC MEASUREMENTS AND INTRAOCULAR PRESSURE IN PATIENTS WITH FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY – A CASE CONTROL STUDY
Published 2023 - 27th ESCRS Winter Meeting
Reference: P154 | Type: Free Paper Submission | DOI: 10.82333/w7gq-7777
Authors: Ana Faria Pereira* 1 , Mário Lima-Fontes 2 , Mariana Leuzinger-Dias 2 , Cláudia Oliveira-Ferreira 2 , Raul Moreira 2 , João Pinheiro-Costa 2 , Fernando Falcão-Reis 2 , Susana Penas 2
1Ophthalmolgy,Centro Hospitalar e Universitário de São João,Porto,Portugal, 2Centro Hospitalar e Universitário de São João,Porto,Portugal
Purpose
Setting
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. It is an autosomal dominant disease characterized by its muscle involvement pattern, asymmetric, involving facial muscles, shoulder girdles, and upper arms. Severity is variable but the overall lifespan is not shortened.
Patients may also present with extramuscular manifestations such as vision and hearing loss, arrhythmias, intellectual disability and epilepsy.
Retinal vasculopathy is an established component of the phenotype.
Orbicularis oculi weakness hampers adequate eyelid closure especially during sleep time resulting in potential exposure keratitis and corneal ulceration.
Rosa N. et al reported that FSHD patients have thinner corneas and lower IOP but no other studies have been made in this regard.
Methods
FSHD patients were recruited from the neuromuscular disease consultation at the Neurology Department of Hospital de São João from January to March 2022.
Data such as gender, age, history of ocular surface disease and artificial tears (AT) utilization has been collected. All patients underwent a thorough evaluation including a clinical assessment with refraction, BCVA, slit lamp exam with keratoconjunctival fluorescein staining (using the Oxford scheme for categorization), orbicular muscle evaluation and IOP measurement using a Goldmann applanation tonometer, and corneal tomography with Pentacam®.
A group of 10 healthy controls with matching age and gender was recruited.
Results
A total of 22 eyes of 11 FSHD patients were examined. 7 patients were female (64%) and the mean age was 41 years (±20; 8–77). 3 of the 22 eyes were pseudophakic. 6 patients had inadequate eyelid closure (lagophtalmus) and 3 patients reported chronical use of AT.
4 patients classified as grade 0 in Oxford scheme for keratoconjunctival fluorescein staining, 2 as grade I, 4 as grade II and 1 as grade III. There was a statistically significant association between lagopthalmus and keratoconjunctival staining grade (p<0,001).
BCVA was similar between groups with a mean value of 0,89 (±0,23) versus 0,99 (±0,04) in the control group (p=0,063) as well as spherical equivalent of the refraction.
For keratometric measurements, anterior chamber depth (ACD) was higher in the case group, with a mean value of 3,26mm (±0,21) versus 2,82mm (±0,24) in the control group (p<0,05) even when pseudophakic eyes were not included. No differences were showed regarding corneal thickness, keratometry, corneal volume, white-to-white corneal diameter or anterior chamber angle between groups.
IOP showed no significant differences between groups.
Conclusion
FSHD patients have higher grades of corneal staining due to facial muscles involvement leading to lagophtalmus. ACD appears to be higher in FSHD patients but no other significant differences were showed.