Abnormal vascular and neural retinal morphology in congenital lifetime isolated growth hormone deficiency

• The role of GH/IGFs axis in the human retina is still not clear.
• Isolated GH deficiency (IGHD) due to a GHRHR mutation can help study this role.
• Adults with untreated IGHD present a moderate reduction of vascular branching points.
• IGHD subjects exhibit increase of optic disc and cup, and normal thickness of the macula.
• Distinct, but benign retinal phenotype is present in congenital IGHD.

ObjectiveExperimental models demonstrate an important role of GH in retinal development. However, the interactions between GH and the neuro-vascularization of the human retina are still not clear. A model of untreated congenital isolated GH deficiency (IGHD) may clarify the actions of GH on the retina. The purpose of this work was to assess the retinal neuro-vascularization in untreated congenital IGHD (cIGHD).DesignIn a cross sectional study, we performed an endocrine and ophthalmological assessment of 25 adult cIGHD subjects, homozygous for a null mutation (c.57 + 1G > A) in the GHRH receptor gene and 28 matched controls. Intraocular pressure measurement, retinography (to assess the number of retinal vascular branching points and the optic disc and cup size), and optical coherence tomography (to assess the thickness of macula) were performed.ResultscIGHD subjects presented a more significant reduction of vascular branching points in comparison to controls (91% vs. 53% [p = 0.049]). The percentage of moderate reduction was higher in cIGHD than in controls (p = 0.01). The percentage of individuals with increased optic disc was higher in cIGHD subjects in comparison to controls (92.9% vs. 57.1%). The same occurred for cup size (92.9% vs. 66.7%), p < 0.0001 in both cases. There was no difference in macula thickness.ConclusionsMost cIGHD individuals present moderate reduction of vascular branching points, increase of optic disc and cup size, but have similar thickness of the macula.