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Ocular findings in adult subjects with an inactivating mutation in GH releasing hormone receptor gene

Artikel i vetenskaplig tidskrift
Författare A. C. N. Faro
V. M. Pereira-Gurgel
R. Salvatoric
V. C. Campos
G. B. Melo
F. T. Oliveira
A. A. Oliveira-Santos
C. R. P. Oliveira
F. A. Pereira
Ann Hellström
L. A. Oliveira-Neto
E. H. O. Valenca
M. H. Aguiar-Oliveira
Publicerad i Growth Hormone & Igf Research
Volym 34
Sidor 8-12
ISSN 1096-6374
Publiceringsår 2017
Publicerad vid Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik
Sidor 8-12
Språk English Rsen js , 1979 , acta ophthalmologica , v57 , p76 Rsen js , 1971 , acta ophthalmologica , v49 , p427
Länkar doi.org/10.1016/j.ghir.2017.04.002
Ämnesord GH deficiency, Eye size, Visual acuity, central corneal thickness, angle-closure glaucoma, growth-factor-ii, human retina, deficiency, children, eye, endocrine, diameter, birth, Cell Biology, Endocrinology & Metabolism
Ämneskategorier Klinisk medicin


Objective: Ocular function is fundamental for environmental adaptation and survival capacity. Growth factors are necessary for a mature eyeball, needed for adequate vision. However, the consequences of the deficiency of circulating growth hormone (GH) and its effector insulin-like growth factor I (IGF-I) on the physical aspects of the human eye are still debated. A model of untreated isolated GH deficiency (IGHD), with low but measurable serum GH, may clarify this issue. The aim of this study was to assess the ocular aspects of adult IGHD individuals who have never received GH therapy. Methods: Setting: University Hospital, Federal University of Sergipe, Brazil. Patients: Twenty-five adult (13 males, mean age 50.1 years, range 26 to 70 years old) IGHD subjects homozygous for a null mutation (c.57 + 1G > A) in the GHRH receptor gene, and 28 (15 males, mean age 51.1 years, range 26 to 67 years old) controls were submitted to an endocrine and ophthalmological assessment. Forty-six IGHD and 50 control eyes were studied. Main outcome measures: Visual acuity, intraocular pressure, refraction (spherical equivalent), ocular axial length (AL), anterior chamber depth (ACD), lens thickness (LT), vitreous depth (VD), mean corneal curvature (CC) and central corneal thickness (CCT). Results: IGHD subjects exhibited unmeasurable serum IGF-I levels, similar visual acuity, intraocular pressure and LT, higher values of spherical equivalent and CC, and lower measures of AL, ACD, VD and CCT in comparison to controls, but within their respective normal ranges. While mean stature in IGHD group was 78% of the control group, mean head circumference was 92% and axial AL was 96%. Conclusions: These observations suggest mild ocular effects in adult subjects with severe IGF-I deficiency due to non-treated IGHD.

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