Optic Nerve Hypoplasia: A Retrospective Analysis of Clinical Presentation and Disease Severity

Figures & data

Figure 1 Retinal nerve fiber layer (RNFL) thickness (μm) at optic nerve head as compared to best-corrected visual acuity in subjects with unilateral and bilateral optic nerve hypoplasia.

Table 1 Characteristics of Subjects

Characteristic	%	n/N
Gender
Male	57%	21/37
Female	43%	16/37
Race or Ethnicity
White/Caucasian	76%	28/37
African-American	11%	4/37
Hispanic	8%	3/37
American Indian	3%	1/37
Other	3%	1/37
Laterality of ONH
Unilateral	41%	15/37
Bilateral	59%	22/37
Endocrinopathies
GH deficiency	11%	4/37
Hypothyroidism	11%	4/37
Adrenal insufficiency	19%	7/37
Testosterone deficiency	3%	1/37

Table 2 Evaluation of Relationship Between RNFL Thickness of the Optic Nerve Head, as Determined by OCT Spectralis, for Subjects with Either Unilateral or Bilateral ONH, and Recorded Best-Corrected Visual Acuity

Parameter Estimates		Log Coefficient	Standard Error	Lower	Upper	P-value
Spectral Domain	Eyes Involved
G	Unilateral	−1.42	0.49	−2.41	−0.43	0.006**
	Bilateral	−1.04	0.51	−2.08	0.01	0.052
NI	Unilateral	−1.07	0.45	−1.97	−0.16	0.022*
	Bilateral	−0.73	0.25	−1.25	−0.22	0.006**
NS	Unilateral	−0.51	0.34	−1.21	0.19	0.14
	Bilateral	−0.39	0.38	−1.15	0.38	0.31
N	Unilateral	−0.24	0.31	−0.88	0.4	0.45
	Bilateral	0.24	0.27	−0.32	0.8	0.38
TI	Unilateral	−1.73	0.5	−2.74	−0.71	0.001**
	Bilateral	−0.04	0.35	−0.76	0.67	0.9
TS	Unilateral	−1.04	0.43	−1.91	−0.17	0.021*
	Bilateral	−0.8	0.29	−1.39	−0.21	0.009**
T	Unilateral	−0.44	0.4	−1.26	0.38	0.28
	Bilateral	−0.26	0.29	−0.85	0.33	0.37

Notes: Lower and Upper refer to the 95% confidence interval for the coefficient. *Indicates a statistically significant result (p < 0.05) and **Indicates a highly statistically significant result (p < 0.01).

Table 3 Summary of Subjects with Nystagmus, Strabismus at Most Recent Office Visit, and Endocrinopathies According to the Laterality of the Optic Nerve Hypoplasia

	Total	Unilateral ONH	Bilateral ONH	Unilateral ONH	Bilateral ONH
		N	N	%	%
Nystagmus
Absent	26	12	14	80	63.6
Present	11	3	8	20	36.4
Strabismus
Absent	5	1	4	6.7	18.2
Present	32	14	18	93.3	81.8
Growth Hormone (IGF 1)
Too low	4	2	2	18.2	15.4
Normal	20	9	11	81.8	84.6
Undetermined	13	4	9
Thyroid Function
Too low	4	2	2	18.2	11.8
Normal	24	9	15	81.8	88.2
Undetermined	9	4	5
Cortisol
Too low	7	2	5	18.2	38.5
Normal	17	9	8	81.8	61.5
Undetermined	13	4	9
Testosterone
Too low	1	1		50
Normal	4	1	3	50	100
Undetermined	32	13	19

Note: “Undetermined” values indicate subjects for which blood hormone levels were ordered, but never drawn.

Table 4 Estimation of the Effects of RNFL Thickness at Optic Nerve Head Domains in the Presence of Nystagmus

Parameter Estimates	Coefficient	Standard	P-value	Odds Ratio
		Error
Effect
G	−0.0097	0.016	0.58	0.908
NI	−0.0092	0.011	0.42	0.912
NS	0.00	0.010	0.96	1.00
N	0.0109	0.0139	0.43	1.011
TI	−0.0114	0.0113	0.32	0.9887
TS	−0.0172	0.0112	0.11	0.983
T	−0.0076	0.0146	0.66	0.9924

Notes: Laterality of OCT Spectralis results is not considered. Odds ratios are in units of 10; that is, a 10-point increase in the RNFL thickness indicates the magnitude of the increase or decrease in the occurrence of an event.

Table 5 Estimation of the Effects of RNFL Thickness at Optic Nerve Head Domains in the Presence of Nystagmus

Parameter Estimates		Coefficient	Standard Error	P-value	Odds Ratio
Effect	Values
G	OD	0.005	0.024	0.84	1.005
	OS	−0.023	0.027	0.41	0.977
NI	OD	0.021	0.016	0.2	1.021
	OS	−0.112	0.067	0.006**	0.894
NS	OD	0.002	0.011	0.81	1.002
	OS	−0.006	0.021	0.86	0.994
N	OD	0.026	0.019	0.16	1.027
	OS	−0.011	0.025	0.7	0.989
TI	OD	−0.005	0.015	0.74	0.995
	OS	−0.02	0.02	0.3	0.98
TS	OD	−0.02	0.016	0.22	0.981
	OS	−0.013	0.016	0.41	0.987
T	OD	−0.031	0.03	0.31	0.97
	OS	0.002	0.016	0.81	1.002

Notes: Right (OD) and left (OS) eyes are considered separately. Odds ratios are reported in units of 10; that is, a 10-point increase in the RNFL thickness indicates the magnitude of the increase or decrease in the occurrence of an event. **Indicates a highly statistically significant result (p < 0.01).

Figure 2 Radar graph depiction of the odds ratio of having nystagmus evaluated at individual optic nerve head regions. In each panel, the outer gray circle represents the maximum value across all the points; the black circle represents an odds ratio of 1 (i.e., no difference). Values within the black circle have an odds ratio of less than 1. Right eye: OD; Left eye: OS. Optic nerve head regions include temporal-superior (TS), temporal (T), temporal-inferior (TI), nasal-inferior (NI), nasal (N), and nasal-superior (NS).